Variant report

Variant	nsv542034
Chromosome Location	chr14:35546114-35724892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2035)
CpG islands
(count:1037)
Chromatin interactive
region (count:220)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:2035 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:35547257-35547542	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:35613218-35613555	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:35615869-35616033	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:35628114-35628276	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:35658657-35659080	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:35682775-35683608	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:35591026-35591699	K562	blood:	n/a	chr14:35591480-35591488
8	ARID3A	chr14:35609838-35610282	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:35628515-35629631	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:35590633-35592472	HepG2	liver:	n/a	chr14:35591480-35591488
11	ARID3A	chr14:35698749-35699034	HepG2	liver:	n/a	n/a
12	ATF1	chr14:35629215-35629517	K562	blood:	n/a	n/a
13	ATF1	chr14:35590856-35592000	K562	blood:	n/a	n/a
14	ATF2	chr14:35723934-35724302	GM12878	blood:	n/a	n/a
15	ATF2	chr14:35590769-35591863	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr14:35590839-35591575	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr14:35590456-35592108	GM12878	blood:	n/a	n/a
18	ATF2	chr14:35591095-35591822	GM12878	blood:	n/a	n/a
19	ATF3	chr14:35591062-35591829	GM12878	blood:	n/a	chr14:35591484-35591504
20	ATF3	chr14:35590988-35592153	HepG2	liver:	n/a	chr14:35591484-35591504
21	ATF3	chr14:35591254-35591787	A549	lung:	n/a	chr14:35591484-35591504
22	ATF3	chr14:35629129-35629373	K562	blood:	n/a	n/a
23	ATF3	chr14:35591305-35591773	H1-hESC	embryonic stem cell:	n/a	chr14:35591484-35591504
24	ATF3	chr14:35591069-35591891	HepG2	liver:	n/a	chr14:35591484-35591504
25	ATF3	chr14:35591326-35591632	K562	blood:	n/a	chr14:35591484-35591504
26	ATF3	chr14:35591368-35591602	GM12878	blood:	n/a	chr14:35591484-35591504
27	BACH1	chr14:35705679-35705717	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr14:35629052-35629485	GM12878	blood:	n/a	chr14:35629286-35629297 chr14:35629287-35629297
29	BATF	chr14:35654077-35654389	GM12878	blood:	n/a	n/a
30	BATF	chr14:35629074-35629473	GM12878	blood:	n/a	chr14:35629286-35629297 chr14:35629287-35629297
31	BATF	chr14:35723939-35724282	GM12878	blood:	n/a	n/a
32	BATF	chr14:35654130-35654416	GM12878	blood:	n/a	n/a
33	BATF	chr14:35591663-35591964	GM12878	blood:	n/a	n/a
34	BCL11A	chr14:35723979-35724282	GM12878	blood:	n/a	n/a
35	BCL11A	chr14:35723969-35724182	GM12878	blood:	n/a	n/a
36	BCL11A	chr14:35629109-35629431	GM12878	blood:	n/a	chr14:35629290-35629299 chr14:35629289-35629298
37	BCL3	chr14:35590950-35592103	A549	lung:	n/a	n/a
38	BCL3	chr14:35590607-35591936	A549	lung:	n/a	n/a
39	BCL3	chr14:35628914-35629626	A549	lung:	n/a	chr14:35629290-35629299 chr14:35629289-35629298
40	BCLAF1	chr14:35590870-35592203	GM12878	blood:	n/a	n/a
41	BCLAF1	chr14:35723999-35724323	GM12878	blood:	n/a	n/a
42	BCLAF1	chr14:35590896-35592186	GM12878	blood:	n/a	n/a
43	BHLHE40	chr14:35590749-35592231	HepG2	liver:	n/a	n/a
44	BHLHE40	chr14:35590665-35592190	K562	blood:	n/a	n/a
45	BHLHE40	chr14:35591280-35591665	A549	lung:	n/a	n/a
46	BHLHE40	chr14:35628362-35628811	HepG2	liver:	n/a	n/a
47	BHLHE40	chr14:35666093-35666107	GM12878	blood:	n/a	n/a
48	BHLHE40	chr14:35723918-35724258	GM12878	blood:	n/a	n/a
49	BHLHE40	chr14:35590781-35592288	GM12878	blood:	n/a	n/a
50	BRCA1	chr14:35684344-35684947	Hela-S3	cervix:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35591572-35591622	HNPCEpiC	eye:	n/a
2	chr14:35591572-35591622	HCT-116	colon:	n/a
3	chr14:35591695-35591745	T-47D	breast:	n/a
4	chr14:35591523-35591573	LNCaP	prostate:	n/a
5	chr14:35591695-35591745	GM12878	blood:	n/a
6	chr14:35591781-35591831	Caco-2	colon:	n/a
7	chr14:35591572-35591622	HRE	kidney:	n/a
8	chr14:35591840-35591890	AG10803	skin:	n/a
9	chr14:35591625-35591675	GM12878	blood:	n/a
10	chr14:35683834-35683884	HPAEpiC	pulmonary alveolar:	n/a
11	chr14:35591695-35591745	MCF10A-Er-Src	breast:	n/a
12	chr14:35587750-35587800	Jurkat	blood:	n/a
13	chr14:35683834-35683884	AG09309	skin:	n/a
14	chr14:35591695-35591745	HIPEpiC	eye:	n/a
15	chr14:35589334-35589384	ovcar-3	ovarian:	n/a
16	chr14:35683834-35683884	AG04449	skin:	fetal
17	chr14:35587750-35587800	HEK293	kidney:	embryo
18	chr14:35591781-35591831	U87	brain:	n/a
19	chr14:35683834-35683884	HMEC	breast:	n/a
20	chr14:35591781-35591831	HAEpiC	amniotic membrane:	n/a
21	chr14:35594356-35594406	HCF	heart:	n/a
22	chr14:35589334-35589384	PANC-1	pancreas:	n/a
23	chr14:35629311-35629361	HNPCEpiC	eye:	n/a
24	chr14:35594356-35594406	ECC-1	luminal epithelium:	n/a
25	chr14:35589334-35589384	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:35594356-35594406	SKMC	muscle:	n/a
27	chr14:35629311-35629361	PANC-1	pancreas:	n/a
28	chr14:35591781-35591831	HRPEpiC	eye:	n/a
29	chr14:35591840-35591890	AoSMC	blood vessel:	n/a
30	chr14:35591572-35591622	NB4	blood:	n/a
31	chr14:35583718-35583768	AG09319	gingival:	n/a
32	chr14:35683834-35683884	HRE	kidney:	n/a
33	chr14:35587750-35587800	HIPEpiC	eye:	n/a
34	chr14:35592116-35592166	GM06990	blood:	n/a
35	chr14:35591781-35591831	MCF-7	breast:	n/a
36	chr14:35591625-35591675	HL-60	blood:	n/a
37	chr14:35589334-35589384	NB4	blood:	n/a
38	chr14:35587750-35587800	GM12891	blood:	n/a
39	chr14:35589334-35589384	NT2-D1	testis:	n/a
40	chr14:35683834-35683884	Caco-2	colon:	n/a
41	chr14:35591572-35591622	K562	blood:	n/a
42	chr14:35629311-35629361	SAEC	small airway:	n/a
43	chr14:35591951-35592001	HCPEpiC	choroid plexus:	n/a
44	chr14:35683834-35683884	GM12891	blood:	n/a
45	chr14:35589334-35589384	AoSMC	blood vessel:	n/a
46	chr14:35591781-35591831	BE2_C	brain:	n/a
47	chr14:35594356-35594406	GM12878	blood:	n/a
48	chr14:35591781-35591831	HL-60	blood:	n/a
49	chr14:35591572-35591622	HRCEpiC	kidney:	n/a
50	chr14:35591523-35591573	HIPEpiC	eye:	n/a

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr14:35698439..35699139-chr14:35882158..35883164,4	MCF-7	breast:
2	chr14:35634398..35636898-chr14:35641045..35642555,2	K562	blood:
3	chr14:35007371..35009556-chr14:35679216..35680992,2	MCF-7	breast:
4	chr14:35552593..35554577-chr14:35554998..35557782,3	MCF-7	breast:
5	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
6	chr14:35699017..35701574-chr14:35761450..35763007,2	MCF-7	breast:
7	chr14:35698922..35700571-chr14:35810245..35812248,2	MCF-7	breast:
8	chr14:35707379..35710076-chr14:35710482..35713240,2	MCF-7	breast:
9	chr14:35622588..35627460-chr14:35872526..35876521,6	MCF-7	breast:
10	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
11	chr14:35517575..35519344-chr14:35683138..35684908,2	MCF-7	breast:
12	chr14:35628255..35632944-chr14:35633604..35637748,5	MCF-7	breast:
13	chr14:35016883..35018423-chr14:35574764..35577501,2	MCF-7	breast:
14	chr14:35610009..35610550-chr14:36156270..36157192,2	K562	blood:
15	chr14:35576972..35579105-chr14:35589747..35591526,2	MCF-7	breast:
16	chr1:45196086..45196947-chr14:35590878..35591536,2	Hela-S3	cervix:
17	chr14:35591658..35595888-chr14:35872338..35875561,5	K562	blood:
18	chr14:35589196..35594400-chr14:35871301..35877730,13	MCF-7	breast:
19	chr14:35705470..35707557-chr14:35709197..35711039,2	K562	blood:
20	chr14:35683927..35684734-chr14:35875633..35876485,2	MCF-7	breast:
21	chr14:35718039..35721234-chr14:35721513..35723379,3	MCF-7	breast:
22	chr14:35590512..35592667-chr14:35626960..35629855,2	MCF-7	breast:
23	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
24	chr14:35669178..35671456-chr14:35674272..35676613,2	MCF-7	breast:
25	chr14:35629587..35631138-chr14:35874069..35875682,2	MCF-7	breast:
26	chr14:35617849..35620759-chr14:35622945..35624771,2	K562	blood:
27	chr14:35689608..35693753-chr14:35865249..35869361,6	MCF-7	breast:
28	chr14:35680464..35682083-chr14:35684601..35686665,2	MCF-7	breast:
29	chr14:35636279..35638693-chr14:35643286..35645234,2	K562	blood:
30	chr14:35670539..35672448-chr14:35874285..35876170,2	MCF-7	breast:
31	chr14:35711268..35715087-chr14:35870152..35873955,3	MCF-7	breast:
32	chr14:35636279..35638693-chr14:35643286..35645234,2	K562	blood:
33	chr14:35513562..35515919-chr14:35564977..35566594,2	MCF-7	breast:
34	chr14:35713971..35716399-chr14:35872514..35875136,2	MCF-7	breast:
35	chr14:35665653..35667827-chr14:35670189..35673146,2	K562	blood:
36	chr14:35673298..35676269-chr14:35873221..35876037,2	MCF-7	breast:
37	chr14:35571820..35573660-chr14:35580909..35583356,2	MCF-7	breast:
38	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
39	chr14:35698917..35700420-chr14:35714304..35715826,2	MCF-7	breast:
40	chr14:35593618..35595181-chr14:35595674..35598084,2	K562	blood:
41	chr14:35700495..35703278-chr14:35704050..35706629,2	K562	blood:
42	chr14:35661003..35662833-chr14:35873537..35876182,2	MCF-7	breast:
43	chr14:35631921..35634177-chr14:35636642..35638625,2	K562	blood:
44	chr14:35709151..35713105-chr14:35760006..35762827,3	MCF-7	breast:
45	chr14:35590489..35591401-chr15:91445904..91446665,2	Hela-S3	cervix:
46	chr14:35689551..35692151-chr14:35760450..35762726,3	MCF-7	breast:
47	chr14:35636158..35638112-chr14:35872373..35874812,2	MCF-7	breast:
48	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
49	chr14:35565651..35568101-chr14:35571541..35574493,2	K562	blood:
50	chr14:35342738..35344659-chr14:35589687..35591484,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-3	chr14:35585816-35585943	NONHSAT036363
2	lnc-RP11-173D9.3.1-3	chr14:35700900-35700969	l_963_chr14:35700899-35775195_brain
3	lnc-RP11-173D9.3.1-1	chr14:35575573-35575690	ENSG00000247658
4	lnc-PPP2R3C-4	chr14:35691819-35692693	l_962_chr14:35668508-35676460_thyroid
5	lnc-PPP2R3C-3	chr14:35651558-35651951	uc_373_-
6	lnc-PPP2R3C-1	chr14:35613227-35613686	NONHSAT036366
7	lnc-RP11-173D9.3.1-3	chr14:35704074-35704252	l_963_chr14:35700899-35775195_brain
8	lnc-PPP2R3C-4	chr14:35668509-35676125	l_962_chr14:35668508-35676460_thyroid
9	lnc-PPP2R3C-4	chr14:35690827-35691028	l_962_chr14:35668508-35676460_thyroid
10	lnc-PPP2R3C-4	chr14:35676137-35676460	l_962_chr14:35668508-35676460_thyroid
11	lnc-RP11-173D9.3.1-1	chr14:35579776-35579932	ENSG00000247658
12	lnc-PPP2R3C-4	chr14:35692695-35692853	l_962_chr14:35668508-35676460_thyroid
13	lnc-RP11-173D9.3.1-3	chr14:35703077-35703223	l_963_chr14:35700899-35775195_brain
14	lnc-PPP2R3C-2	chr14:35627110-35628305	NONHSAT036367
15	lnc-PPP2R3C-4	chr14:35704820-35705215	l_962_chr14:35668508-35676460_thyroid
16	lnc-PPP2R3C-4	chr14:35693328-35695629	l_962_chr14:35668508-35676460_thyroid
17	lnc-BAZ1A-3	chr14:35591108-35591185	NONHSAT036363
18	lnc-PPP2R3C-4	chr14:35714373-35714399	l_962_chr14:35668508-35676460_thyroid
19	lnc-FAM177A1-4	chr14:35651558-35651951	uc_373_+
20	lnc-PPP2R3C-4	chr14:35704130-35704256	l_962_chr14:35668508-35676460_thyroid
21	lnc-PPP2R3C-4	chr14:35701581-35701640	l_962_chr14:35668508-35676460_thyroid
22	lnc-PPP2R3C-4	chr14:35715251-35715712	l_962_chr14:35668508-35676460_thyroid
23	lnc-BAZ1A-3	chr14:35579129-35579835	NONHSAT036363
24	lnc-PPP2R3C-4	chr14:35704706-35704801	l_962_chr14:35668508-35676460_thyroid
25	lnc-RP11-173D9.3.1-1	chr14:35579101-35579166	ENSG00000247658
26	lnc-RP11-173D9.3.1-3	chr14:35704702-35704801	l_963_chr14:35700899-35775195_brain
27	lnc-RP11-173D9.3.1-1	chr14:35568882-35571935	ENSG00000247658

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FAM177A1	hsa-miR-155-5p	chr14:35551927-35551947
2	FAM177A1	hsa-miR-186-5p	chr14:35550483-35550504
3	FAM177A1	hsa-miR-124-3p	chr14:35552521-35552538
4	FAM177A1	hsa-miR-142-3p	chr14:35551080-35551101
5	FAM177A1	hsa-miR-186-5p	chr14:35551034-35551055
6	FAM177A1	hsa-miR-124-3p	chr14:35552531-35552538

Variant related genes	Relation type
ENSG00000241052	TF binding region
ENSG00000259090	TF binding region
FAM177A1	TF binding region
KIAA0391	TF binding region
ENSG00000258790	TF binding region
PPP2R3C	TF binding region
RPL7AP3	TF binding region
ENSG00000241052	CpG island
ENSG00000259090	CpG island
FAM177A1	CpG island
KIAA0391	CpG island
ENSG00000258790	CpG island
PPP2R3C	CpG island
RPL7AP3	CpG island
ENSG00000265530	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000141376	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000196547	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000259090	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000256243	chromatin interactions
ENSG00000094916	chromatin interactions
ENSG00000100883	chromatin interactions
ENSG00000258704	chromatin interactions
ENSG00000258738	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000008130	chromatin interactions
ENSG00000240392	chromatin interactions
SAMD4B	miRNA target sites
FNDC3A	miRNA target sites
NEFM	miRNA target sites
C2CD4A	miRNA target sites

Extended variants
information (count: 6844 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:6844 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189896429	chr14:35546162-35546163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs563744556	chr14:35546263-35546264	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559437734	chr14:35546264-35546265	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs577477880	chr14:35546265-35546266	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs377332877	chr14:35546327-35546328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs370623753	chr14:35546335-35546336	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs201685337	chr14:35546356-35546357	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs199770102	chr14:35546364-35546365	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560063186	chr14:35546372-35546373	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs3211139	chr14:35546373-35546374	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78042202	chr14:35546416-35546417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs201438951	chr14:35546436-35546437	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs377404411	chr14:35546438-35546439	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs17103013	chr14:35546452-35546453	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563039822	chr14:35546461-35546462	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376190555	chr14:35546465-35546466	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs531735582	chr14:35546477-35546478	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs551753207	chr14:35546491-35546492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs8011242	chr14:35546498-35546499	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs534459741	chr14:35546528-35546529	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs548089958	chr14:35546579-35546580	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs377255109	chr14:35546672-35546673	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs143015738	chr14:35546674-35546675	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs150813883	chr14:35546675-35546676	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs571706824	chr14:35546699-35546700	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs567734833	chr14:35546705-35546706	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs533112189	chr14:35546729-35546730	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs555157952	chr14:35546736-35546737	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs8010299	chr14:35546750-35546751	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs799492	chr14:35546757-35546758	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs557299498	chr14:35546774-35546775	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs577242102	chr14:35546789-35546790	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs540115969	chr14:35546790-35546791	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs8010838	chr14:35546797-35546798	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573746635	chr14:35546813-35546814	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs542854696	chr14:35546844-35546845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs187787690	chr14:35546846-35546847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs531798979	chr14:35546902-35546903	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs191844309	chr14:35546905-35546906	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs553163238	chr14:35546909-35546910	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369547495	chr14:35546910-35546911	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547755597	chr14:35546918-35546919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs183750885	chr14:35546935-35546936	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs146426789	chr14:35546940-35546941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs188483406	chr14:35547002-35547003	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs537865709	chr14:35547019-35547020	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs115825077	chr14:35547063-35547064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs193072468	chr14:35547110-35547111	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs557459766	chr14:35547177-35547178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs150167241	chr14:35547191-35547192	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
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
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164920	CNVD

Chromatin state (count:4069 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
2	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
3	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
6	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
8	chr14:35520200-35550800	Weak transcription	NHLF	lung
9	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:35526600-35547200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:35526600-35552400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:35528200-35547400	Weak transcription	Fetal Thymus	thymus
13	chr14:35528200-35552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
15	chr14:35528600-35552400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:35528600-35552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:35529000-35552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:35529400-35555800	Weak transcription	Aorta	Aorta
20	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
21	chr14:35530400-35550600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:35530600-35547200	Weak transcription	HMEC	breast
23	chr14:35530600-35548000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:35530600-35550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:35530600-35552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
27	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
28	chr14:35530800-35552000	Weak transcription	Hela-S3	cervix
29	chr14:35531400-35547400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:35531400-35550800	Weak transcription	HUVEC	blood vessel
31	chr14:35531400-35552600	Weak transcription	Pancreas	Pancrea
32	chr14:35531400-35563400	Weak transcription	Gastric	stomach
33	chr14:35538200-35546200	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:35538200-35547000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:35538200-35547000	Weak transcription	HSMMtube	muscle
36	chr14:35538200-35547400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:35538400-35546200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:35538400-35546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:35538400-35546800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:35538400-35547000	Weak transcription	Fetal Kidney	kidney
42	chr14:35538400-35547000	Weak transcription	NHEK	skin
43	chr14:35538400-35547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:35538400-35547400	Weak transcription	Ovary	ovary
45	chr14:35538400-35548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:35538400-35550800	Weak transcription	Dnd41	blood
47	chr14:35538400-35552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:35539000-35546200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:35539000-35546200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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