Variant report

Variant	nsv1050774
Chromosome Location	chr14:31879687-32102906
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	chr14:31998310-31998539	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:32029929-32030900	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:31919242-31919576	K562	blood:	n/a	n/a
5	ARID3A	chr14:32013429-32013589	K562	blood:	n/a	n/a
6	ARID3A	chr14:31979285-31979597	K562	blood:	n/a	n/a
7	ARID3A	chr14:32013394-32013714	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:32094871-32095254	HepG2	liver:	n/a	chr14:32095223-32095239 chr14:32095224-32095240
9	ARID3A	chr14:31979345-31979767	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:31888898-31891391	HepG2	liver:	n/a	n/a
11	ARID3A	chr14:32049609-32049683	HepG2	liver:	n/a	n/a
12	ARID3A	chr14:31902751-31902786	HepG2	liver:	n/a	n/a
13	ARID3A	chr14:31925760-31927934	HepG2	liver:	n/a	n/a
14	ARID3A	chr14:31919193-31919618	HepG2	liver:	n/a	n/a
15	ARID3A	chr14:31889740-31890190	K562	blood:	n/a	n/a
16	ATF1	chr14:31926120-31926865	K562	blood:	n/a	n/a
17	ATF1	chr14:32030401-32030925	K562	blood:	n/a	chr14:32030577-32030591
18	ATF1	chr14:31919264-31919476	K562	blood:	n/a	n/a
19	ATF2	chr14:31889508-31890142	GM12878	blood:	n/a	n/a
20	ATF2	chr14:31889628-31890309	GM12878	blood:	n/a	n/a
21	ATF2	chr14:31958860-31959365	GM12878	blood:	n/a	n/a
22	ATF2	chr14:32030344-32030839	GM12878	blood:	n/a	chr14:32030577-32030591
23	ATF2	chr14:32030341-32031054	GM12878	blood:	n/a	chr14:32030577-32030591
24	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
25	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
26	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
27	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
28	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
29	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
30	ATF3	chr14:31889517-31890325	A549	lung:	n/a	n/a
31	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
32	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
33	BACH1	chr14:32030457-32030747	K562	blood:	n/a	n/a
34	BACH1	chr14:31926111-31926143	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr14:31893454-31893489	K562	blood:	n/a	n/a
36	BACH1	chr14:31889072-31890103	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr14:32037936-32038139	GM12878	blood:	n/a	n/a
38	BATF	chr14:32030472-32030775	GM12878	blood:	n/a	chr14:32030578-32030591
39	BATF	chr14:31890090-31890408	GM12878	blood:	n/a	n/a
40	BCL11A	chr14:31969113-31969289	GM12878	blood:	n/a	n/a
41	BCL11A	chr14:31887740-31887953	GM12878	blood:	n/a	n/a
42	BCL3	chr14:31925991-31926652	A549	lung:	n/a	n/a
43	BCL3	chr14:31889359-31890148	A549	lung:	n/a	chr14:31889766-31889779
44	BCL3	chr14:31910564-31911423	A549	lung:	n/a	n/a
45	BCLAF1	chr14:31926271-31926791	GM12878	blood:	n/a	n/a
46	BCLAF1	chr14:32030305-32030908	GM12878	blood:	n/a	chr14:32030555-32030564
47	BCLAF1	chr14:31889496-31890203	GM12878	blood:	n/a	chr14:31889766-31889779
48	BHLHE40	chr14:31926519-31926988	GM12878	blood:	n/a	n/a
49	BHLHE40	chr14:31926028-31927013	HepG2	liver:	n/a	n/a
50	BHLHE40	chr14:31879528-31879697	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32073463-32073513	AG10803	skin:	n/a
2	chr14:31907252-31907302	GM12892	blood:	n/a
3	chr14:32029310-32029360	HL-60	blood:	n/a
4	chr14:31889640-31889690	HNPCEpiC	eye:	n/a
5	chr14:31889003-31889053	HRPEpiC	eye:	n/a
6	chr14:32073463-32073513	AG10803	skin:	n/a
7	chr14:31907252-31907302	GM12892	blood:	n/a
8	chr14:32029310-32029360	HL-60	blood:	n/a
9	chr14:31889640-31889690	HNPCEpiC	eye:	n/a
10	chr14:31889003-31889053	HRPEpiC	eye:	n/a
11	chr14:32030686-32030736	PrEC	prostate:	n/a
12	chr14:31890001-31890051	AG09319	gingival:	n/a
13	chr14:32030916-32030966	U87	brain:	n/a
14	chr14:31929696-31929746	GM12878	blood:	n/a
15	chr14:32031012-32031062	A549	lung:	n/a
16	chr14:32030404-32030454	NHDF-neo	bronchial:	n/a
17	chr14:31915923-31915973	NB4	blood:	n/a
18	chr14:31926483-31926533	HEEpiC	esophagus:	n/a
19	chr14:31926483-31926533	GM12878	blood:	n/a
20	chr14:31926216-31926266	GM12891	blood:	n/a
21	chr14:31926564-31926614	PANC-1	pancreas:	n/a
22	chr14:32029920-32029970	H1-hESC	embryonic stem cell:	embryo
23	chr14:31926483-31926533	SK-N-MC	brain:	n/a
24	chr14:31890001-31890051	HUVEC	blood vessel:	n/a
25	chr14:31926789-31926839	SK-N-SH_RA	brain:	n/a
26	chr14:31890052-31890102	IMR90	lung:	fetal
27	chr14:32030404-32030454	HRE	kidney:	n/a
28	chr14:32030686-32030736	U87	brain:	n/a
29	chr14:31889912-31889962	SK-N-SH_RA	brain:	n/a
30	chr14:31889003-31889053	GM12878	blood:	n/a
31	chr14:32030584-32030634	NHBE	bronchial:	n/a
32	chr14:31926216-31926266	U87	brain:	n/a
33	chr14:31892296-31892346	Hela-S3	cervix:	n/a
34	chr14:32029310-32029360	HCM	heart:	n/a
35	chr14:31929696-31929746	ovcar-3	ovarian:	n/a
36	chr14:31929696-31929746	Hepatocyte	liver:	n/a
37	chr14:31889912-31889962	GM12892	blood:	n/a
38	chr14:31974893-31974943	Hepatocyte	liver:	n/a
39	chr14:31915923-31915973	SK-N-SH	brain:	n/a
40	chr14:31926776-31926826	GM19239	blood:	n/a
41	chr14:31974893-31974943	HL-60	blood:	n/a
42	chr14:32030579-32030629	AG09309	skin:	n/a
43	chr14:31889640-31889690	AoSMC	blood vessel:	n/a
44	chr14:31923667-31923717	BJ	skin:	n/a
45	chr14:32073463-32073513	HepG2	liver:	n/a
46	chr14:31926299-31926349	AoSMC	blood vessel:	n/a
47	chr14:31926862-31926912	MCF-7	breast:	n/a
48	chr14:32031012-32031062	Jurkat	blood:	n/a
49	chr14:31926483-31926533	ECC-1	luminal epithelium:	n/a
50	chr14:32030457-32030507	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31925036..31927590-chr14:31947189..31950405,3	MCF-7	breast:
2	chr14:31888444..31892446-chr14:31892724..31897271,5	K562	blood:
3	chr14:31676619..31677277-chr14:31889333..31889964,2	K562	blood:
4	chr14:31675457..31678157-chr14:31923548..31926271,3	MCF-7	breast:
5	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
6	chr14:31905050..31906707-chr14:31906776..31909428,2	K562	blood:
7	chr14:32058170..32059829-chr14:32063421..32066274,2	MCF-7	breast:
8	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:
9	chr14:31913970..31917383-chr14:31917651..31919831,3	MCF-7	breast:
10	chr14:31888742..31889382-chr3:41241031..41241649,2	Hela-S3	cervix:
11	chr13:37574206..37574708-chr14:31889229..31890178,2	Hela-S3	cervix:
12	chr14:31888318..31891005-chr14:31919529..31921805,3	MCF-7	breast:
13	chr14:32029880..32032465-chr14:32040379..32041979,2	K562	blood:
14	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
15	chr14:31881996..31884911-chr14:31918681..31921369,2	MCF-7	breast:
16	chr14:31857830..31860114-chr14:31922683..31925572,2	K562	blood:
17	chr14:31914833..31916596-chr14:31919367..31920967,2	MCF-7	breast:
18	chr14:32029434..32031919-chr14:32034723..32037100,2	MCF-7	breast:
19	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
20	chr14:31888413..31890616-chr14:31917360..31920011,3	MCF-7	breast:
21	chr14:31915577..31920525-chr14:31924298..31927871,6	MCF-7	breast:
22	chr14:31979147..31979905-chr14:32256388..32256891,2	MCF-7	breast:
23	chr14:32045847..32047973-chr14:32058333..32059909,2	MCF-7	breast:
24	chr14:31899509..31901563-chr14:31901913..31904667,2	K562	blood:
25	chr14:31887438..31889783-chr14:31913776..31915504,2	MCF-7	breast:
26	chr14:31917093..31923585-chr14:31924368..31929094,11	MCF-7	breast:
27	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
28	chr14:31926509..31929146-chr14:31940368..31943663,3	MCF-7	breast:
29	chr14:31925687..31926473-chr17:8076447..8076967,2	Hela-S3	cervix:
30	chr14:31950717..31953457-chr14:31954097..31956557,2	MCF-7	breast:
31	chr14:32031985..32034611-chr14:32035178..32036787,2	MCF-7	breast:
32	chr14:31926057..31926979-chr20:2632755..2633485,2	NB4	blood:
33	chr14:31909214..31911851-chr14:31915493..31917225,2	K562	blood:
34	chr14:31888418..31891014-chr14:31913687..31916039,2	K562	blood:
35	chr14:32031985..32034611-chr14:32035178..32036787,2	MCF-7	breast:
36	chr14:31924768..31927652-chr14:31950974..31952580,2	K562	blood:
37	chr14:31923625..31927013-chr14:32030157..32032112,3	K562	blood:
38	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
39	chr14:31889308..31890174-chr6:31795417..31795943,2	Hela-S3	cervix:
40	chr14:31925030..31927583-chr14:31933327..31936225,2	MCF-7	breast:
41	chr14:32025880..32027814-chr14:32029222..32031344,2	MCF-7	breast:
42	chr14:32044780..32047478-chr14:32049514..32051528,2	MCF-7	breast:
43	chr14:31909214..31911851-chr14:31915493..31917225,2	K562	blood:
44	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
45	chr14:32067637..32070373-chr14:32072834..32075613,2	MCF-7	breast:
46	chr14:31880032..31886531-chr14:31888185..31891239,11	MCF-7	breast:
47	chr14:32023534..32025380-chr14:32030147..32032486,2	K562	blood:
48	chr14:31906586..31908599-chr14:31913797..31916070,2	MCF-7	breast:
49	chr14:31918485..31921453-chr14:31921609..31924237,3	MCF-7	breast:
50	chr14:31914833..31916596-chr14:31919367..31920967,2	MCF-7	breast:

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

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

Extended variants
information (count: 7633 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:7633 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528509438	chr14:31879692-31879693	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144674942	chr14:31879716-31879717	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191570747	chr14:31879723-31879724	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182495053	chr14:31879731-31879732	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186737697	chr14:31879737-31879738	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529376511	chr14:31879843-31879844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550754688	chr14:31879872-31879873	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190750863	chr14:31879907-31879908	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540009793	chr14:31879918-31879919	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11628982	chr14:31879957-31879958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368399839	chr14:31879958-31879959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111992708	chr14:31879998-31879999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577903189	chr14:31880015-31880016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533581620	chr14:31880036-31880037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375099522	chr14:31880074-31880075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117223546	chr14:31880096-31880097	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570609107	chr14:31880140-31880141	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555795306	chr14:31880167-31880168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577439072	chr14:31880176-31880177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200404348	chr14:31880180-31880181	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544787378	chr14:31880236-31880237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183269181	chr14:31880267-31880268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572298231	chr14:31880281-31880282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187203578	chr14:31880323-31880324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562123293	chr14:31880353-31880354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563863014	chr14:31880361-31880362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115323035	chr14:31880362-31880363	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201740989	chr14:31880363-31880364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148123206	chr14:31880432-31880433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201401671	chr14:31880538-31880539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs397808932	chr14:31880541-31880542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75517665	chr14:31880542-31880543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562934883	chr14:31880559-31880560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533602091	chr14:31880602-31880603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563539000	chr14:31880629-31880630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192891189	chr14:31880648-31880649	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185448568	chr14:31880649-31880650	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141882525	chr14:31880712-31880713	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35324158	chr14:31880763-31880764	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549373945	chr14:31880765-31880766	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs147305674	chr14:31880773-31880774	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537416717	chr14:31880795-31880796	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555872916	chr14:31880845-31880846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs117447581	chr14:31880847-31880848	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs17555812	chr14:31880859-31880860	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs553538243	chr14:31880874-31880875	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs114786101	chr14:31880884-31880885	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187913312	chr14:31880891-31880892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554539109	chr14:31880927-31880928	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76968223	chr14:31880954-31880955	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:3153 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
3	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
6	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
8	chr14:31859200-31880600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
10	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:31863400-31883200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:31863400-31884400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:31864600-31888400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:31865600-31883200	Weak transcription	NHEK	skin
15	chr14:31865600-31884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:31867000-31886800	Weak transcription	Esophagus	oesophagus
18	chr14:31867600-31880600	Weak transcription	Colonic Mucosa	Colon
19	chr14:31867800-31880400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:31868000-31883800	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:31868200-31887400	Weak transcription	Fetal Intestine Large	intestine
22	chr14:31868400-31883800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:31869800-31880600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:31870600-31883200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:31870600-31888200	Weak transcription	Fetal Stomach	stomach
26	chr14:31870800-31880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:31871000-31880600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:31871000-31880600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:31871000-31880600	Weak transcription	Osteobl	bone
31	chr14:31871000-31883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31871000-31883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:31871000-31883000	Weak transcription	HUVEC	blood vessel
34	chr14:31871000-31883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:31871000-31888400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:31871200-31880800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:31871200-31883400	Weak transcription	NHDF-Ad	bronchial
39	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:31871600-31880600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:31871600-31880800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:31871600-31883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:31871600-31887400	Weak transcription	Liver	Liver
44	chr14:31871600-31888400	Weak transcription	NH-A	brain
45	chr14:31871800-31880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:31871800-31880400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:31871800-31880600	Weak transcription	Hela-S3	cervix
48	chr14:31871800-31887600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:31872000-31882600	Weak transcription	Placenta	Placenta
50	chr14:31872200-31883000	Weak transcription	HSMM	muscle

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