Variant report

Variant	nsv934206
Chromosome Location	chr14:31887749-32257097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:31926692-31926973	K562	blood:	n/a	n/a
2	ARID3A	chr14:32049609-32049683	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:32013429-32013589	K562	blood:	n/a	n/a
4	ARID3A	chr14:31998310-31998539	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:31979345-31979767	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:32256644-32256965	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:31902751-31902786	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:31889740-31890190	K562	blood:	n/a	n/a
9	ARID3A	chr14:31888898-31891391	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:32094871-32095254	HepG2	liver:	n/a	chr14:32095223-32095239 chr14:32095224-32095240
11	ARID3A	chr14:31919193-31919618	HepG2	liver:	n/a	n/a
12	ARID3A	chr14:32013394-32013714	HepG2	liver:	n/a	n/a
13	ARID3A	chr14:32153639-32153640	HepG2	liver:	n/a	n/a
14	ARID3A	chr14:32186760-32187276	HepG2	liver:	n/a	n/a
15	ARID3A	chr14:32256749-32256838	K562	blood:	n/a	n/a
16	ARID3A	chr14:31979285-31979597	K562	blood:	n/a	n/a
17	ARID3A	chr14:32029929-32030900	HepG2	liver:	n/a	n/a
18	ARID3A	chr14:31925760-31927934	HepG2	liver:	n/a	n/a
19	ARID3A	chr14:31919242-31919576	K562	blood:	n/a	n/a
20	ARID3A	chr14:32217355-32217854	HepG2	liver:	n/a	n/a
21	ATF1	chr14:31926120-31926865	K562	blood:	n/a	n/a
22	ATF1	chr14:32030401-32030925	K562	blood:	n/a	chr14:32030577-32030591
23	ATF1	chr14:31919264-31919476	K562	blood:	n/a	n/a
24	ATF2	chr14:31889628-31890309	GM12878	blood:	n/a	n/a
25	ATF2	chr14:32030341-32031054	GM12878	blood:	n/a	chr14:32030577-32030591
26	ATF2	chr14:31958860-31959365	GM12878	blood:	n/a	n/a
27	ATF2	chr14:32030344-32030839	GM12878	blood:	n/a	chr14:32030577-32030591
28	ATF2	chr14:31889508-31890142	GM12878	blood:	n/a	n/a
29	ATF3	chr14:32030430-32030998	HepG2	liver:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
30	ATF3	chr14:32030502-32030817	H1-hESC	embryonic stem cell:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
31	ATF3	chr14:32030510-32030706	GM12878	blood:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
32	ATF3	chr14:32030435-32030748	K562	blood:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
33	ATF3	chr14:32030405-32030715	K562	blood:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
34	ATF3	chr14:32256603-32256876	K562	blood:	n/a	n/a
35	ATF3	chr14:32030480-32030779	K562	blood:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
36	ATF3	chr14:32030376-32030812	GM12878	blood:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
37	ATF3	chr14:32030278-32031101	HepG2	liver:	n/a	chr14:32030581-32030591 chr14:32030579-32030592 chr14:32030578-32030588 chr14:32030581-32030589 chr14:32030578-32030588 chr14:32030579-32030590 chr14:32030581-32030588 chr14:32030578-32030591 chr14:32030580-32030588 chr14:32030579-32030590 chr14:32030581-32030592 chr14:32030577-32030592 chr14:32030578-32030591 chr14:32030580-32030600
38	ATF3	chr14:31889517-31890325	A549	lung:	n/a	n/a
39	BACH1	chr14:31893454-31893489	K562	blood:	n/a	n/a
40	BACH1	chr14:32030457-32030747	K562	blood:	n/a	n/a
41	BACH1	chr14:31889072-31890103	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr14:31926111-31926143	H1-hESC	embryonic stem cell:	n/a	n/a
43	BATF	chr14:32222145-32222496	GM12878	blood:	n/a	chr14:32222322-32222333
44	BATF	chr14:31890090-31890408	GM12878	blood:	n/a	n/a
45	BATF	chr14:32030472-32030775	GM12878	blood:	n/a	chr14:32030578-32030591
46	BATF	chr14:32222193-32222405	GM12878	blood:	n/a	chr14:32222322-32222333
47	BATF	chr14:32037936-32038139	GM12878	blood:	n/a	n/a
48	BCL11A	chr14:31969113-31969289	GM12878	blood:	n/a	n/a
49	BCL11A	chr14:31887740-31887953	GM12878	blood:	n/a	n/a
50	BCL3	chr14:31925991-31926652	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31926792-31926842	Hela-S3	cervix:	n/a
2	chr14:32030579-32030629	MCF10A-Er-Src	breast:	n/a
3	chr14:32030597-32030647	AG04450	lung:	fetal
4	chr14:31926792-31926842	Hela-S3	cervix:	n/a
5	chr14:32030579-32030629	MCF10A-Er-Src	breast:	n/a
6	chr14:32030597-32030647	AG04450	lung:	fetal
7	chr14:31926564-31926614	BE2_C	brain:	n/a
8	chr14:32030579-32030629	NT2-D1	testis:	n/a
9	chr14:32030457-32030507	LNCaP	prostate:	n/a
10	chr14:32180736-32180786	T-47D	breast:	n/a
11	chr14:32180736-32180786	CMK	blood:	n/a
12	chr14:32109281-32109331	IMR90	lung:	fetal
13	chr14:32030546-32030596	SK-N-MC	brain:	n/a
14	chr14:31996632-31996682	BE2_C	brain:	n/a
15	chr14:31926299-31926349	HCM	heart:	n/a
16	chr14:31926483-31926533	HCT-116	colon:	n/a
17	chr14:32109281-32109331	HRPEpiC	eye:	n/a
18	chr14:32073463-32073513	NHBE	bronchial:	n/a
19	chr14:32030916-32030966	Hepatocyte	liver:	n/a
20	chr14:32180736-32180786	HCT-116	colon:	n/a
21	chr14:31926862-31926912	SK-N-SH_RA	brain:	n/a
22	chr14:32073463-32073513	HAEpiC	amniotic membrane:	n/a
23	chr14:32030686-32030736	NHDF-neo	bronchial:	n/a
24	chr14:31889640-31889690	HepG2	liver:	n/a
25	chr14:32030597-32030647	HCT-116	colon:	n/a
26	chr14:31892296-31892346	SKMC	muscle:	n/a
27	chr14:31890001-31890051	HCF	heart:	n/a
28	chr14:32030686-32030736	MCF10A-Er-Src	breast:	n/a
29	chr14:31890001-31890051	ProgFib	skin:	n/a
30	chr14:32030404-32030454	AoSMC	blood vessel:	n/a
31	chr14:32109281-32109331	T-47D	breast:	n/a
32	chr14:31890001-31890051	SK-N-SH	brain:	n/a
33	chr14:31996486-31996536	NT2-D1	testis:	n/a
34	chr14:32030916-32030966	HAEpiC	amniotic membrane:	n/a
35	chr14:32181048-32181098	NHBE	bronchial:	n/a
36	chr14:31926483-31926533	HRE	kidney:	n/a
37	chr14:31926862-31926912	SKMC	muscle:	n/a
38	chr14:31889640-31889690	SK-N-SH_RA	brain:	n/a
39	chr14:31996632-31996682	SKMC	muscle:	n/a
40	chr14:32030176-32030226	MCF-7	breast:	n/a
41	chr14:32109281-32109331	GM12878	blood:	n/a
42	chr14:31926564-31926614	HCF	heart:	n/a
43	chr14:31890001-31890051	MCF-7	breast:	n/a
44	chr14:31926483-31926533	A549	lung:	n/a
45	chr14:31926299-31926349	HEK293	kidney:	embryo
46	chr14:31996486-31996536	HNPCEpiC	eye:	n/a
47	chr14:31890052-31890102	HCF	heart:	n/a
48	chr14:32031012-32031062	SK-N-SH	brain:	n/a
49	chr14:31926862-31926912	RPTEC	kidney:	n/a
50	chr14:31926483-31926533	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31888249..31890715-chr14:31905768..31907591,2	MCF-7	breast:
2	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
3	chr14:32058170..32059829-chr14:32063421..32066274,2	MCF-7	breast:
4	chr14:31887438..31889783-chr14:31913776..31915504,2	MCF-7	breast:
5	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:
6	chr14:32250042..32252755-chr14:32254053..32255704,2	MCF-7	breast:
7	chr14:32031985..32034611-chr14:32035178..32036787,2	MCF-7	breast:
8	chr14:32023534..32025380-chr14:32030147..32032486,2	K562	blood:
9	chr14:32026102..32028468-chr14:32029065..32030751,2	K562	blood:
10	chr14:32026102..32028468-chr14:32029065..32030751,2	K562	blood:
11	chr14:31913970..31917383-chr14:31917651..31919831,3	MCF-7	breast:
12	chr14:31917093..31923585-chr14:31924368..31929094,11	MCF-7	breast:
13	chr14:31889321..31891710-chr14:31909671..31912287,4	K562	blood:
14	chr11:122932393..122933144-chr14:31926505..31927244,2	NB4	blood:
15	chr14:32034560..32036452-chr14:32038131..32040324,3	MCF-7	breast:
16	chr14:32039155..32042058-chr14:32047091..32049607,2	K562	blood:
17	chr14:31888802..31890809-chr14:31909874..31912034,2	MCF-7	breast:
18	chr14:31926509..31929146-chr14:31940368..31943663,3	MCF-7	breast:
19	chr14:31888413..31890616-chr14:31917360..31920011,3	MCF-7	breast:
20	chr14:32029434..32031919-chr14:32034723..32037100,2	MCF-7	breast:
21	chr14:32067637..32070373-chr14:32072834..32075613,2	MCF-7	breast:
22	chr14:31872181..31874850-chr14:31924970..31926788,2	K562	blood:
23	chr14:32030832..32032361-chr14:32036434..32038297,2	MCF-7	breast:
24	chr14:31979147..31979905-chr14:32256388..32256891,2	MCF-7	breast:
25	chr14:32044780..32047478-chr14:32049514..32051528,2	MCF-7	breast:
26	chr14:31915577..31920525-chr14:31924298..31927871,6	MCF-7	breast:
27	chr14:32045847..32047973-chr14:32058333..32059909,2	MCF-7	breast:
28	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
29	chr14:31925687..31926473-chr17:8076447..8076967,2	Hela-S3	cervix:
30	chr14:31906586..31908599-chr14:31913797..31916070,2	MCF-7	breast:
31	chr14:32068418..32071070-chr14:32073502..32076049,2	K562	blood:
32	chr14:31888596..31889246-chr8:110346351..110347121,2	Hela-S3	cervix:
33	chr14:31889495..31890465-chr2:61698381..61699106,2	Hela-S3	cervix:
34	chr14:31979147..31979905-chr14:32256388..32256891,2	MCF-7	breast:
35	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
36	chr14:32030832..32032361-chr14:32036434..32038297,2	MCF-7	breast:
37	chr14:32195719..32197688-chr14:32198704..32200404,2	MCF-7	breast:
38	chr14:31861407..31863284-chr14:31887639..31889155,2	K562	blood:
39	chr14:32034560..32036452-chr14:32038131..32040324,3	MCF-7	breast:
40	chr14:32031985..32034611-chr14:32035178..32036787,2	MCF-7	breast:
41	chr14:32045847..32047973-chr14:32058333..32059909,2	MCF-7	breast:
42	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
43	chr14:32025880..32027814-chr14:32029222..32031344,2	MCF-7	breast:
44	chr14:32123058..32124663-chr14:32126123..32128762,2	K562	blood:
45	chr14:31926644..31929603-chr14:31946033..31947573,2	K562	blood:
46	chr14:32250042..32252755-chr14:32254053..32255704,2	MCF-7	breast:
47	chr14:31881996..31884911-chr14:31918681..31921369,2	MCF-7	breast:
48	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
49	chr14:31918485..31921453-chr14:31921609..31924237,3	MCF-7	breast:
50	chr14:31888336..31890825-chr14:31917653..31919383,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUBPL-1	chr14:31891054-31891174	ENSG00000250365
2	lnc-AP4S1-2	chr14:31995258-31995393	XLOC_010789
3	lnc-NUBPL-1	chr14:31908878-31909155	ENSG00000250365
4	lnc-C14orf126-2	chr14:32030317-32030540	ENSG00000257155.1
5	lnc-RP11-187E13.1.1-1	chr14:32027031-32027301	NONHSAT036285
6	lnc-C14orf126-1	chr14:32027624-32027704	ENSG00000258196.1
7	lnc-RP11-187E13.1.1-1	chr14:32019977-32020133	NONHSAT036285
8	lnc-AP4S1-2	chr14:31959233-31959309	XLOC_010789
9	lnc-RP11-187E13.1.1-1	chr14:32020114-32020133	XLOC_010790
10	lnc-C14orf126-2	chr14:32027713-32027776	ENSG00000257155.1
11	lnc-NUBPL-1	chr14:31914850-31914940	ENSG00000250365
12	lnc-NUBPL-1	chr14:31891054-31891174	ENSG00000250365
13	lnc-NUBPL-1	chr14:31891050-31891174	ENSG00000250365
14	lnc-RP11-187E13.1.1-1	chr14:32023231-32023433	XLOC_010790
15	lnc-NUBPL-1	chr14:31889492-31889791	ENSG00000250365
16	lnc-NUBPL-1	chr14:31921313-31922089	ENSG00000250365
17	lnc-C14orf126-1	chr14:32023194-32023269	ENSG00000258196.1
18	lnc-NUBPL-1	chr14:31908878-31909151	ENSG00000250365
19	lnc-C14orf126-1	chr14:32022564-32022836	ENSG00000258196.1
20	lnc-RP11-187E13.1.1-1	chr14:31995361-31995382	NONHSAT036285
21	lnc-NUBPL-1	chr14:31889964-31890183	ENSG00000250365
22	lnc-C14orf126-7	chr14:31932001-31932577	NONHSAT036283
23	lnc-NUBPL-1	chr14:31890150-31890183	ENSG00000250365

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C14orf126	hsa-miR-181b-5p	chr14:31915941-31915963

Variant related genes	Relation type
NUBPL	TF binding region
RNU6-602P	TF binding region
ENSG00000257155	TF binding region
ENSG00000250365	TF binding region
ENSG00000239323	TF binding region
ENSG00000258196	TF binding region
ENSG00000203546	TF binding region
DTD2	TF binding region
HEATR5A	TF binding region
GPR33	TF binding region
RNU6-455P	TF binding region
NUBPL	CpG island
RNU6-602P	CpG island
ENSG00000257155	CpG island
ENSG00000250365	CpG island
ENSG00000239323	CpG island
ENSG00000258196	CpG island
ENSG00000203546	CpG island
DTD2	CpG island
HEATR5A	CpG island
GPR33	CpG island
RNU6-455P	CpG island
ENSG00000092108	chromatin interactions
ENSG00000270820	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000120526	chromatin interactions
ENSG00000151413	chromatin interactions
ENSG00000168036	chromatin interactions
ENSG00000129480	chromatin interactions
ENSG00000142188	chromatin interactions
ENSG00000221062	chromatin interactions
ENSG00000101361	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000250365	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000129493	chromatin interactions
ENSG00000257155	chromatin interactions
ENSG00000119969	chromatin interactions
ENSG00000109971	chromatin interactions
ENSG00000214943	chromatin interactions
ENSG00000120533	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000092148	chromatin interactions
ENSG00000203546	chromatin interactions
ENSG00000196792	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000258196	chromatin interactions
ENSG00000204388	chromatin interactions
ALG2	miRNA target sites
SERPINB5	miRNA target sites
CCNG1	miRNA target sites
SLC26A2	miRNA target sites
YTHDC1	miRNA target sites
CD274	miRNA target sites

Extended variants
information (count: 13672 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:13672 , 50 per page) page: 1 2 3 4 5 6 7 ... 274

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185043506	chr14:31887769-31887770	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs560890017	chr14:31887804-31887805	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs541010469	chr14:31887867-31887868	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs527970007	chr14:31887885-31887886	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs549228320	chr14:31887964-31887965	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs560557581	chr14:31887999-31888000	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs541254029	chr14:31888094-31888095	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs373281562	chr14:31888118-31888119	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs73261114	chr14:31888127-31888128	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551417573	chr14:31888132-31888133	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs148909378	chr14:31888174-31888175	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs58850422	chr14:31888254-31888255	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538871030	chr14:31888330-31888331	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs547264759	chr14:31888366-31888367	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs565826943	chr14:31888368-31888369	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs536159446	chr14:31888407-31888408	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs554876269	chr14:31888461-31888462	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs199743106	chr14:31888488-31888489	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs190266623	chr14:31888503-31888504	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs181033726	chr14:31888530-31888531	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs556724242	chr14:31888548-31888549	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs578032452	chr14:31888556-31888557	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs376246774	chr14:31888650-31888651	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs567601671	chr14:31888728-31888729	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs185446959	chr14:31888743-31888744	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs545626346	chr14:31888749-31888750	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs560531753	chr14:31888765-31888766	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs58506726	chr14:31888786-31888787	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180779927	chr14:31888823-31888824	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs112196229	chr14:31888836-31888837	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs143587323	chr14:31888891-31888892	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs151038245	chr14:31888945-31888946	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs142316120	chr14:31888982-31888983	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs549361109	chr14:31889018-31889019	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs8017305	chr14:31889022-31889023	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs57921816	chr14:31889078-31889079	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs146354943	chr14:31889200-31889201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs370646977	chr14:31889209-31889210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs565757404	chr14:31889250-31889251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs536418475	chr14:31889253-31889254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs548538383	chr14:31889262-31889263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs569945733	chr14:31889267-31889268	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs574715786	chr14:31889279-31889280	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs7156793	chr14:31889294-31889295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577930271	chr14:31889302-31889303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs538762282	chr14:31889317-31889318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs139181706	chr14:31889330-31889331	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs191867341	chr14:31889336-31889337	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs574614876	chr14:31889338-31889339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs542788539	chr14:31889368-31889369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3501 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
4	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
5	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:31864600-31888400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:31870600-31888200	Weak transcription	Fetal Stomach	stomach
9	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:31871000-31888400	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:31871600-31888400	Weak transcription	NH-A	brain
14	chr14:31872200-31888200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:31875800-31888200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:31875800-31888200	Weak transcription	K562	blood
17	chr14:31876000-31889000	Weak transcription	Gastric	stomach
18	chr14:31879000-31888600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:31880000-31888600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:31880800-31888400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:31881000-31888200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:31881000-31888200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:31881000-31888400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:31883200-31888600	Weak transcription	Aorta	Aorta
25	chr14:31884000-31888400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:31884000-31888400	Weak transcription	Stomach Mucosa	stomach
27	chr14:31884200-31888200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:31884200-31888200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:31884200-31888400	Weak transcription	Placenta	Placenta
30	chr14:31884200-31888600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:31884600-31888200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31884600-31888200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:31884600-31888200	Weak transcription	HMEC	breast
34	chr14:31884600-31888800	Weak transcription	Small Intestine	intestine
35	chr14:31884600-31889000	Weak transcription	Spleen	Spleen
36	chr14:31884800-31888200	Weak transcription	NHEK	skin
37	chr14:31884800-31888400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:31885000-31888200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:31885400-31889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:31886800-31888400	Weak transcription	Fetal Intestine Small	intestine
41	chr14:31887000-31887800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:31887000-31888400	Enhancers	Adipose Nuclei	Adipose
43	chr14:31887000-31888800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr14:31887200-31888000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:31887200-31888000	Flanking Active TSS	HepG2	liver
46	chr14:31887200-31888200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:31887200-31888200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:31887200-31888400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:31887200-31888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:31887200-31888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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