Variant report

Variant	nsv566185
Chromosome Location	chr14:105660766-105685865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1360)
CpG islands
(count:1650)
Chromatin interactive
region (count:83)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1360 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr14:105665582-105665772	K562	blood:	n/a	n/a
2	BACH1	chr14:105662435-105662753	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:105663077-105663199	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105669384-105669662	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr14:105681677-105681921	GM12878	blood:	n/a	n/a
6	BCL3	chr14:105681691-105682038	GM12878	blood:	n/a	n/a
7	BCL3	chr14:105669015-105669647	A549	lung:	n/a	n/a
8	BCL3	chr14:105668099-105668659	A549	lung:	n/a	chr14:105668189-105668198
9	BCL3	chr14:105668932-105669779	A549	lung:	n/a	n/a
10	BCL3	chr14:105670617-105671440	A549	lung:	n/a	n/a
11	BCL3	chr14:105667847-105668627	A549	lung:	n/a	chr14:105667887-105667896 chr14:105668189-105668198 chr14:105667888-105667897
12	BHLHE40	chr14:105670862-105671194	HepG2	liver:	n/a	n/a
13	BHLHE40	chr14:105673381-105673508	K562	blood:	n/a	n/a
14	BRCA1	chr14:105663594-105663903	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr14:105665434-105665804	K562	blood:	n/a	n/a
16	CCNT2	chr14:105662979-105663291	K562	blood:	n/a	n/a
17	CCNT2	chr14:105673513-105673600	K562	blood:	n/a	n/a
18	CCNT2	chr14:105665556-105665715	K562	blood:	n/a	n/a
19	CCNT2	chr14:105672167-105672351	K562	blood:	n/a	n/a
20	CEBPB	chr14:105671141-105671144	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr14:105669556-105669564	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:105663593-105663880	Hela-S3	cervix:	n/a	n/a
23	CHD1	chr14:105673884-105674043	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr14:105662873-105662997	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr14:105663633-105663886	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr14:105671082-105671202	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr14:105669344-105669598	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr14:105669336-105669667	A549	lung:	n/a	chr14:105669579-105669592
29	CREB1	chr14:105669366-105669549	A549	lung:	n/a	n/a
30	CTBP2	chr14:105662423-105663290	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:105673740-105673890	HRPEpiC	eye:	n/a	chr14:105673860-105673873 chr14:105673854-105673872 chr14:105673857-105673870
32	CTCF	chr14:105669355-105669632	MCF-7	breast:	n/a	chr14:105669491-105669501 chr14:105669486-105669504 chr14:105669489-105669498 chr14:105669489-105669502 chr14:105669487-105669503 chr14:105669489-105669502
33	CTCF	chr14:105673780-105673930	HMF	breast:	n/a	chr14:105673860-105673873 chr14:105673854-105673872 chr14:105673857-105673870
34	CTCF	chr14:105667740-105667890	GM12872	blood:	n/a	chr14:105667869-105667887
35	CTCF	chr14:105667800-105667950	HBMEC	blood vessel:	n/a	chr14:105667869-105667887
36	CTCF	chr14:105664980-105665130	HRE	kidney:	n/a	chr14:105665101-105665114 chr14:105665102-105665111
37	CTCF	chr14:105673808-105673912	GM19238	blood:	n/a	chr14:105673860-105673873 chr14:105673854-105673872 chr14:105673857-105673870
38	CTCF	chr14:105669360-105669510	GM12869	blood:	n/a	chr14:105669491-105669501 chr14:105669486-105669504 chr14:105669489-105669498 chr14:105669489-105669502 chr14:105669487-105669503 chr14:105669489-105669502
39	CTCF	chr14:105668860-105669010	GM12874	blood:	n/a	n/a
40	CTCF	chr14:105666540-105666690	HBMEC	blood vessel:	n/a	chr14:105666577-105666595 chr14:105666578-105666594
41	CTCF	chr14:105669380-105669530	HEEpiC	esophagus:	n/a	chr14:105669491-105669501 chr14:105669486-105669504 chr14:105669489-105669498 chr14:105669489-105669502 chr14:105669487-105669503 chr14:105669489-105669502
42	CTCF	chr14:105665060-105665210	BE2_C	brain:	n/a	chr14:105665101-105665114 chr14:105665102-105665111
43	CTCF	chr14:105673782-105673941	MCF-7	breast:	n/a	chr14:105673860-105673873 chr14:105673854-105673872 chr14:105673857-105673870
44	CTCF	chr14:105673760-105673910	SK-N-SH_RA	brain:	n/a	chr14:105673860-105673873 chr14:105673854-105673872 chr14:105673857-105673870
45	CTCF	chr14:105667820-105667970	GM12865	blood:	n/a	chr14:105667869-105667887
46	CTCF	chr14:105669440-105669590	SAEC	small airway:	n/a	chr14:105669491-105669501 chr14:105669486-105669504 chr14:105669489-105669498 chr14:105669489-105669502 chr14:105669487-105669503 chr14:105669489-105669502
47	CTCF	chr14:105669100-105669250	AG04449	skin:	n/a	n/a
48	CTCF	chr14:105666560-105666710	HFF	foreskin:	n/a	chr14:105666577-105666595 chr14:105666578-105666594
49	CTCF	chr14:105665080-105665230	GM12865	blood:	n/a	chr14:105665101-105665114 chr14:105665102-105665111
50	CTCF	chr14:105669274-105669644	K562	blood:	n/a	chr14:105669491-105669501 chr14:105669486-105669504 chr14:105669489-105669498 chr14:105669489-105669502 chr14:105669487-105669503 chr14:105669489-105669502

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105662787-105662837	Jurkat	blood:	n/a
2	chr14:105663019-105663069	GM12892	blood:	n/a
3	chr14:105663093-105663143	HCPEpiC	choroid plexus:	n/a
4	chr14:105662787-105662837	Jurkat	blood:	n/a
5	chr14:105663019-105663069	GM12892	blood:	n/a
6	chr14:105663093-105663143	HCPEpiC	choroid plexus:	n/a
7	chr14:105676791-105676841	PrEC	prostate:	n/a
8	chr14:105662787-105662837	SK-N-SH	brain:	n/a
9	chr14:105660876-105660926	HepG2	liver:	n/a
10	chr14:105676908-105676958	HNPCEpiC	eye:	n/a
11	chr14:105663019-105663069	HPAEpiC	pulmonary alveolar:	n/a
12	chr14:105662787-105662837	HEK293	kidney:	embryo
13	chr14:105676908-105676958	HIPEpiC	eye:	n/a
14	chr14:105681416-105681466	NHBE	bronchial:	n/a
15	chr14:105663402-105663452	HRCEpiC	kidney:	n/a
16	chr14:105662805-105662855	HL-60	blood:	n/a
17	chr14:105663478-105663528	HEEpiC	esophagus:	n/a
18	chr14:105677543-105677593	RPTEC	kidney:	n/a
19	chr14:105662787-105662837	HCPEpiC	choroid plexus:	n/a
20	chr14:105663402-105663452	ovcar-3	ovarian:	n/a
21	chr14:105685660-105685710	U87	brain:	n/a
22	chr14:105660876-105660926	GM19239	blood:	n/a
23	chr14:105667508-105667558	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:105667508-105667558	HCPEpiC	choroid plexus:	n/a
25	chr14:105681416-105681466	AG04449	skin:	fetal
26	chr14:105683361-105683411	GM06990	blood:	n/a
27	chr14:105681416-105681466	NH-A	brain:	n/a
28	chr14:105683361-105683411	CMK	blood:	n/a
29	chr14:105683798-105683848	HCM	heart:	n/a
30	chr14:105684005-105684055	GM12892	blood:	n/a
31	chr14:105663402-105663452	HCPEpiC	choroid plexus:	n/a
32	chr14:105676908-105676958	CMK	blood:	n/a
33	chr14:105685021-105685071	CMK	blood:	n/a
34	chr14:105685660-105685710	LNCaP	prostate:	n/a
35	chr14:105676846-105676896	SK-N-MC	brain:	n/a
36	chr14:105677543-105677593	PFSK-1	brain:	n/a
37	chr14:105685732-105685782	HUVEC	blood vessel:	n/a
38	chr14:105676908-105676958	SKMC	muscle:	n/a
39	chr14:105663019-105663069	SKMC	muscle:	n/a
40	chr14:105676908-105676958	ovcar-3	ovarian:	n/a
41	chr14:105660876-105660926	NH-A	brain:	n/a
42	chr14:105670754-105670804	NT2-D1	testis:	n/a
43	chr14:105685660-105685710	HNPCEpiC	eye:	n/a
44	chr14:105685616-105685666	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:105685132-105685182	GM19239	blood:	n/a
46	chr14:105662805-105662855	HRCEpiC	kidney:	n/a
47	chr14:105669480-105669530	SK-N-SH_RA	brain:	n/a
48	chr14:105663478-105663528	HNPCEpiC	eye:	n/a
49	chr14:105685660-105685710	SKMC	muscle:	n/a
50	chr14:105685132-105685182	HRPEpiC	eye:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105662898..105664724-chr14:105766217..105768467,3	MCF-7	breast:
2	chr14:105678829..105680411-chr14:105684341..105687261,3	MCF-7	breast:
3	chr14:105671397..105673814-chr14:105677467..105679452,2	K562	blood:
4	chr14:105670331..105671987-chr14:105672268..105674643,2	K562	blood:
5	chr14:105671389..105673472-chr14:105681134..105682646,2	K562	blood:
6	chr14:105668316..105670026-chr14:105722977..105725479,2	MCF-7	breast:
7	chr14:105667782..105668766-chr14:105818459..105819088,3	MCF-7	breast:
8	chr14:105678545..105680675-chr14:105684011..105686089,2	MCF-7	breast:
9	chr14:105667951..105671831-chr14:105672268..105675254,4	K562	blood:
10	chr14:105668621..105671368-chr14:105688558..105691360,2	K562	blood:
11	chr14:105557231..105560297-chr14:105661772..105664149,3	MCF-7	breast:
12	chr14:105669105..105670016-chr14:105818280..105819197,4	K562	blood:
13	chr14:105658555..105662273-chr14:105665604..105667749,3	K562	blood:
14	chr14:105646891..105649186-chr14:105658307..105661126,2	MCF-7	breast:
15	chr14:105667669..105672140-chr14:105712867..105716210,4	MCF-7	breast:
16	chr14:105568093..105570383-chr14:105666909..105669878,2	K562	blood:
17	chr14:105665162..105667358-chr14:105780436..105782662,2	MCF-7	breast:
18	chr14:105649547..105651849-chr14:105660128..105661657,2	MCF-7	breast:
19	chr14:105672353..105675037-chr14:105816632..105818750,2	K562	blood:
20	chr14:105660777..105662281-chr14:105668696..105670709,2	K562	blood:
21	chr14:105666418..105671078-chr14:105765699..105768969,5	MCF-7	breast:
22	chr14:105667435..105668434-chr14:105747893..105748852,3	MCF-7	breast:
23	chr14:105677171..105678725-chr14:105712964..105714891,2	MCF-7	breast:
24	chr14:105665489..105668109-chr14:105740976..105743490,2	MCF-7	breast:
25	chr14:105670645..105673390-chr14:105687925..105689985,2	MCF-7	breast:
26	chr14:105659714..105661407-chr14:105665604..105667882,2	K562	blood:
27	chr14:105669278..105669927-chr14:105714056..105714962,2	MCF-7	breast:
28	chr14:105659714..105661407-chr14:105665604..105667882,2	K562	blood:
29	chr14:105667141..105669666-chr14:105676688..105678333,2	K562	blood:
30	chr14:105668897..105669930-chr14:105818302..105819064,4	MCF-7	breast:
31	chr14:105669972..105673331-chr14:105732479..105735063,3	MCF-7	breast:
32	chr14:105660748..105662281-chr14:105767050..105768913,2	K562	blood:
33	chr14:105668328..105670868-chr14:105672731..105674371,2	MCF-7	breast:
34	chr14:105635510..105639334-chr14:105658974..105662269,3	K562	blood:
35	chr14:105649676..105651978-chr14:105660260..105663010,3	K562	blood:
36	chr14:105660449..105662714-chr14:105737778..105740475,2	MCF-7	breast:
37	chr14:105667951..105671831-chr14:105672268..105675254,4	K562	blood:
38	chr14:105667147..105672450-chr14:105672961..105678949,7	MCF-7	breast:
39	chr14:105663679..105669180-chr14:105669363..105675708,8	K562	blood:
40	chr14:105663948..105665922-chr14:105668555..105670749,2	MCF-7	breast:
41	chr14:105678829..105680411-chr14:105684341..105687261,3	MCF-7	breast:
42	chr14:105663679..105669180-chr14:105669363..105675708,8	K562	blood:
43	chr14:105681198..105683564-chr14:105712338..105715416,3	MCF-7	breast:
44	chr14:105660861..105663286-chr14:105714757..105716371,2	MCF-7	breast:
45	chr14:105667108..105669624-chr14:105818365..105820045,2	K562	blood:
46	chr14:105669895..105672499-chr14:105780191..105782899,2	MCF-7	breast:
47	chr14:105636897..105638962-chr14:105660422..105663007,2	MCF-7	breast:
48	chr14:105667874..105671061-chr14:105780211..105783022,3	K562	blood:
49	chr14:105668572..105669859-chr14:105733916..105734898,6	MCF-7	breast:
50	chr14:105671031..105673113-chr14:105678890..105680434,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD6-3	chr14:105681490-105682260	NONHSAT040337
2	lnc-BTBD6-3	chr14:105682370-105682401	NONHSAT040337

No data

Variant related genes	Relation type
BRF1	TF binding region
BRF1	CpG island
ENSG00000257622	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000182979	chromatin interactions
ENSG00000257556	chromatin interactions

Extended variants
information (count: 1220 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8017698	chr14:105660766-105660767	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs587635050	chr14:105660777-105660778	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs180957191	chr14:105660820-105660821	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs186037346	chr14:105660837-105660838	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs587655228	chr14:105660842-105660843	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151070612	chr14:105660873-105660874	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs587597486	chr14:105660876-105660877	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs587673869	chr14:105660885-105660886	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112484847	chr14:105660974-105660975	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs191359178	chr14:105660982-105660983	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs181374449	chr14:105661002-105661003	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs587760464	chr14:105661015-105661016	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs145016930	chr14:105661022-105661023	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs76928026	chr14:105661035-105661036	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs72707701	chr14:105661036-105661037	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370270155	chr14:105661053-105661054	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs140988476	chr14:105661054-105661055	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs587761073	chr14:105661091-105661092	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs587619865	chr14:105661131-105661132	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs116540280	chr14:105661235-105661236	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186181525	chr14:105661236-105661237	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs587638636	chr14:105661257-105661258	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34983587	chr14:105661331-105661332	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56404258	chr14:105661370-105661371	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374498954	chr14:105661374-105661375	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190694992	chr14:105661375-105661376	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146442104	chr14:105661395-105661396	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587639469	chr14:105661405-105661406	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367670839	chr14:105661406-105661407	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10140572	chr14:105661496-105661497	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587662566	chr14:105661521-105661522	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375752492	chr14:105661522-105661523	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368297158	chr14:105661548-105661549	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372221758	chr14:105661572-105661573	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs587697025	chr14:105661598-105661599	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs587754083	chr14:105661653-105661654	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587636021	chr14:105661660-105661661	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs587661825	chr14:105661689-105661690	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587747478	chr14:105661699-105661700	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs587614681	chr14:105661703-105661704	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs587683851	chr14:105661721-105661722	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377074421	chr14:105661814-105661815	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs111849604	chr14:105661852-105661853	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587740877	chr14:105661886-105661887	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs587614217	chr14:105661920-105661921	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs587693792	chr14:105661944-105661945	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs199892329	chr14:105661997-105661998	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs587652285	chr14:105662000-105662001	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs587763278	chr14:105662002-105662003	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373650033	chr14:105662019-105662020	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:1133 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105658400-105665200	Enhancers	HUVEC	blood vessel
2	chr14:105659000-105662400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr14:105659000-105669800	Bivalent Enhancer	Fetal Stomach	stomach
4	chr14:105659200-105660800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:105659200-105660800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:105659200-105661000	Enhancers	NH-A	brain
7	chr14:105659200-105661200	Enhancers	Esophagus	oesophagus
8	chr14:105659200-105661400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:105659200-105661400	Bivalent Enhancer	Colonic Mucosa	Colon
10	chr14:105659200-105661400	Enhancers	Spleen	Spleen
11	chr14:105659200-105661600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:105659200-105661600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:105659200-105661600	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr14:105659200-105661800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:105659200-105661800	Enhancers	Fetal Lung	lung
16	chr14:105659200-105662000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:105659200-105662000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:105659200-105662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:105659200-105662200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr14:105659200-105662800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr14:105659200-105663000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr14:105659200-105663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:105659200-105664000	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:105659200-105664200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr14:105659200-105664200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr14:105659200-105664200	Bivalent Enhancer	Fetal Thymus	thymus
27	chr14:105659200-105666600	Bivalent Enhancer	Placenta	Placenta
28	chr14:105659200-105666800	Enhancers	Lung	lung
29	chr14:105659200-105670600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr14:105659400-105661200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:105659400-105662000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:105659400-105662400	Enhancers	A549	lung
33	chr14:105659400-105662600	Enhancers	Right Ventricle	heart
34	chr14:105659400-105662800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:105659600-105661200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr14:105659600-105661200	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr14:105659600-105661600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:105659600-105662400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105659600-105662600	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr14:105659800-105660800	Enhancers	GM12878-XiMat	blood
41	chr14:105659800-105661000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:105659800-105661000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:105659800-105661200	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr14:105659800-105663200	Enhancers	Pancreas	Pancrea
45	chr14:105659800-105666400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr14:105660000-105660800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:105660000-105660800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:105660000-105661400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr14:105660000-105661400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:105660000-105661600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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