Variant report

Variant	nsv522517
Chromosome Location	chr3:138174523-138297982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:842)
CpG islands
(count:183)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:842 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:138198251-138198297	K562	blood:	n/a	n/a
2	ATF2	chr3:138232341-138232746	GM12878	blood:	n/a	n/a
3	BATF	chr3:138290753-138291213	GM12878	blood:	n/a	n/a
4	BATF	chr3:138232250-138232641	GM12878	blood:	n/a	n/a
5	BATF	chr3:138290836-138291217	GM12878	blood:	n/a	n/a
6	BATF	chr3:138232282-138232701	GM12878	blood:	n/a	n/a
7	BCL11A	chr3:138232380-138232593	GM12878	blood:	n/a	n/a
8	BCL11A	chr3:138232300-138232602	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:138232232-138232651	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:138174985-138175101	K562	blood:	n/a	n/a
11	BHLHE40	chr3:138198379-138198526	K562	blood:	n/a	n/a
12	BRCA1	chr3:138226822-138227373	Hela-S3	cervix:	n/a	chr3:138226971-138226978
13	CBX3	chr3:138205231-138205782	K562	blood:	n/a	n/a
14	CBX3	chr3:138264516-138264738	K562	blood:	n/a	n/a
15	CBX3	chr3:138264471-138264803	K562	blood:	n/a	n/a
16	CEBPB	chr3:138281801-138282056	HepG2	liver:	n/a	chr3:138281950-138281961
17	CEBPB	chr3:138214495-138214766	IMR90	lung:	n/a	n/a
18	CEBPB	chr3:138252220-138252307	K562	blood:	n/a	chr3:138252226-138252237 chr3:138252224-138252237 chr3:138252224-138252237
19	CEBPB	chr3:138221907-138222107	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:138214130-138214736	HepG2	liver:	n/a	n/a
21	CEBPB	chr3:138288613-138288832	Hela-S3	cervix:	n/a	chr3:138288660-138288671
22	CEBPB	chr3:138212954-138213705	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr3:138213025-138213508	A549	lung:	n/a	n/a
24	CEBPB	chr3:138214521-138214681	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr3:138214478-138214739	A549	lung:	n/a	n/a
26	CEBPB	chr3:138288565-138288831	HepG2	liver:	n/a	chr3:138288660-138288671
27	CEBPB	chr3:138214472-138214832	K562	blood:	n/a	n/a
28	CEBPB	chr3:138228476-138228768	IMR90	lung:	n/a	n/a
29	CEBPB	chr3:138214522-138214724	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr3:138212962-138213583	HCT-116	colon:	n/a	n/a
31	CEBPB	chr3:138212914-138213620	A549	lung:	n/a	n/a
32	CEBPB	chr3:138288628-138288758	K562	blood:	n/a	chr3:138288660-138288671
33	CEBPB	chr3:138212951-138213482	A549	lung:	n/a	n/a
34	CEBPB	chr3:138212925-138213677	IMR90	lung:	n/a	n/a
35	CEBPB	chr3:138288558-138288802	IMR90	lung:	n/a	chr3:138288660-138288671
36	CEBPB	chr3:138270675-138270800	A549	lung:	n/a	chr3:138270721-138270732
37	CEBPB	chr3:138288564-138288798	MCF-7	breast:	n/a	chr3:138288660-138288671
38	CEBPB	chr3:138270609-138270801	HepG2	liver:	n/a	chr3:138270721-138270732
39	CEBPB	chr3:138270604-138270843	IMR90	lung:	n/a	chr3:138270721-138270732
40	CHD1	chr3:138297122-138297309	GM12878	blood:	n/a	n/a
41	CHD2	chr3:138175058-138175067	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr3:138297131-138297320	GM12878	blood:	n/a	n/a
43	CHD2	chr3:138187953-138188065	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:138286360-138286510	GM12871	blood:	n/a	n/a
45	CTCF	chr3:138178902-138178906	HepG2	liver:	n/a	n/a
46	CTCF	chr3:138198300-138198450	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr3:138246068-138246119	GM10248	blood:	n/a	n/a
48	CTCF	chr3:138181720-138181995	HCT-116	colon:	n/a	chr3:138181881-138181902
49	CTCF	chr3:138178740-138178890	HMF	breast:	n/a	n/a
50	CTCF	chr3:138198225-138198584	Gliobla	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138231780-138231830	GM12892	blood:	n/a
2	chr3:138196760-138196810	LNCaP	prostate:	n/a
3	chr3:138231780-138231830	HIPEpiC	eye:	n/a
4	chr3:138213002-138213052	AG04449	skin:	fetal
5	chr3:138196760-138196810	HRE	kidney:	n/a
6	chr3:138213002-138213052	SK-N-SH_RA	brain:	n/a
7	chr3:138231780-138231830	HRCEpiC	kidney:	n/a
8	chr3:138213002-138213052	HAEpiC	amniotic membrane:	n/a
9	chr3:138231780-138231830	K562	blood:	n/a
10	chr3:138213002-138213052	Hepatocyte	liver:	n/a
11	chr3:138213002-138213052	HIPEpiC	eye:	n/a
12	chr3:138231780-138231830	A549	lung:	n/a
13	chr3:138231780-138231830	LNCaP	prostate:	n/a
14	chr3:138213002-138213052	ECC-1	luminal epithelium:	n/a
15	chr3:138231780-138231830	HRPEpiC	eye:	n/a
16	chr3:138213002-138213052	BJ	skin:	n/a
17	chr3:138231780-138231830	GM12878	blood:	n/a
18	chr3:138213002-138213052	AG09309	skin:	n/a
19	chr3:138213002-138213052	HEK293	kidney:	embryo
20	chr3:138196760-138196810	H1-hESC	embryonic stem cell:	embryo
21	chr3:138231780-138231830	SK-N-MC	brain:	n/a
22	chr3:138196760-138196810	T-47D	breast:	n/a
23	chr3:138196760-138196810	AG04450	lung:	fetal
24	chr3:138231780-138231830	AoSMC	blood vessel:	n/a
25	chr3:138231780-138231830	HCM	heart:	n/a
26	chr3:138231780-138231830	AG10803	skin:	n/a
27	chr3:138196760-138196810	HCPEpiC	choroid plexus:	n/a
28	chr3:138231780-138231830	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:138196760-138196810	MCF-7	breast:	n/a
30	chr3:138231780-138231830	HEK293	kidney:	embryo
31	chr3:138196760-138196810	HL-60	blood:	n/a
32	chr3:138196760-138196810	K562	blood:	n/a
33	chr3:138196760-138196810	HNPCEpiC	eye:	n/a
34	chr3:138213002-138213052	SK-N-SH	brain:	n/a
35	chr3:138196760-138196810	RPTEC	kidney:	n/a
36	chr3:138213002-138213052	HRPEpiC	eye:	n/a
37	chr3:138213002-138213052	HCT-116	colon:	n/a
38	chr3:138213002-138213052	SK-N-MC	brain:	n/a
39	chr3:138213002-138213052	HCPEpiC	choroid plexus:	n/a
40	chr3:138196760-138196810	HMEC	breast:	n/a
41	chr3:138231780-138231830	RPTEC	kidney:	n/a
42	chr3:138196760-138196810	PANC-1	pancreas:	n/a
43	chr3:138231780-138231830	ECC-1	luminal epithelium:	n/a
44	chr3:138196760-138196810	NHDF-neo	bronchial:	n/a
45	chr3:138196760-138196810	SK-N-MC	brain:	n/a
46	chr3:138196760-138196810	MCF10A-Er-Src	breast:	n/a
47	chr3:138231780-138231830	HNPCEpiC	eye:	n/a
48	chr3:138196760-138196810	PFSK-1	brain:	n/a
49	chr3:138196760-138196810	SK-N-SH_RA	brain:	n/a
50	chr3:138231780-138231830	HMEC	breast:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138136047..138137057-chr3:138178340..138179089,3	MCF-7	breast:
2	chr3:138285865..138286691-chr3:138634339..138635162,2	MCF-7	breast:
3	chr3:138222687..138224341-chr3:138230011..138232185,2	MCF-7	breast:
4	chr3:138186020..138187574-chr3:138189253..138191029,2	K562	blood:
5	chr3:138197115..138197897-chr3:138634489..138635059,2	MCF-7	breast:
6	chr3:138228056..138229897-chr3:138230355..138233975,3	K562	blood:
7	chr3:138180759..138183381-chr3:138313025..138314933,2	MCF-7	breast:
8	chr14:105717555..105718335-chr3:138200943..138201661,2	MCF-7	breast:
9	chr3:138186886..138189284-chr3:138191772..138193552,2	K562	blood:
10	chr3:138135853..138136964-chr3:138178372..138179276,3	MCF-7	breast:
11	chr3:138186886..138189284-chr3:138191772..138193552,2	K562	blood:
12	chr20:3451237..3451899-chr3:138226141..138226668,2	MCF-7	breast:
13	chr3:138185730..138189738-chr3:138190908..138194397,4	MCF-7	breast:
14	chr3:138186020..138187574-chr3:138189253..138191029,2	K562	blood:
15	chr3:138153677..138156615-chr3:138182530..138184739,2	MCF-7	breast:
16	chr3:138222687..138224341-chr3:138230011..138232185,2	MCF-7	breast:
17	chr3:138228056..138229897-chr3:138230355..138233975,3	K562	blood:
18	chr3:138173174..138174919-chr3:138181076..138182864,2	MCF-7	breast:
19	chr3:138185730..138189738-chr3:138190908..138194397,4	MCF-7	breast:
20	chr3:138173174..138174919-chr3:138181076..138182864,2	MCF-7	breast:
21	chr3:138194164..138195969-chr3:138327251..138329519,2	MCF-7	breast:
22	chr3:138291466..138294081-chr3:138311931..138314482,2	MCF-7	breast:
23	chr3:138169355..138171117-chr3:138172389..138174530,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESYT3-3	chr3:138217403-138218541	ucscGeneNc_uc003erl_1

No data

Variant related genes	Relation type
ESYT3	TF binding region
CEP70	TF binding region
ESYT3	CpG island
CEP70	CpG island
ENSG00000088812	chromatin interactions
ENSG00000114107	chromatin interactions
ENSG00000158234	chromatin interactions
ENSG00000158220	chromatin interactions

Extended variants
information (count: 5038 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5038 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17282731	chr3:138174523-138174524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs142261110	chr3:138174528-138174529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146252852	chr3:138174529-138174530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535370947	chr3:138174534-138174535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554618901	chr3:138174539-138174540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187049735	chr3:138174561-138174562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377673831	chr3:138174564-138174565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529898308	chr3:138174587-138174588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74563658	chr3:138174598-138174599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80346103	chr3:138174602-138174603	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138045235	chr3:138174634-138174635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189276590	chr3:138174707-138174708	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563791442	chr3:138174713-138174714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370567928	chr3:138174754-138174755	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116753212	chr3:138174755-138174756	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559625877	chr3:138174756-138174757	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528370903	chr3:138174762-138174763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542111373	chr3:138174797-138174798	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181903696	chr3:138174811-138174812	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530544638	chr3:138174838-138174839	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148864341	chr3:138174843-138174844	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143556544	chr3:138174861-138174862	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539723990	chr3:138174877-138174878	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532900068	chr3:138174888-138174889	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186592117	chr3:138174923-138174924	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565981616	chr3:138174963-138174964	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534965143	chr3:138174967-138174968	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189761482	chr3:138174975-138174976	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568332321	chr3:138175004-138175005	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532265025	chr3:138175056-138175057	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537427895	chr3:138175058-138175059	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557426161	chr3:138175073-138175074	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141675962	chr3:138175097-138175098	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577407319	chr3:138175170-138175171	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573775018	chr3:138175185-138175186	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72976615	chr3:138175196-138175197	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75702511	chr3:138175226-138175227	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553158841	chr3:138175285-138175286	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374123367	chr3:138175290-138175291	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186226932	chr3:138175327-138175328	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs774003	chr3:138175363-138175364	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541724061	chr3:138175375-138175376	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569003454	chr3:138175388-138175389	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147998749	chr3:138175422-138175423	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191518978	chr3:138175431-138175432	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543793218	chr3:138175440-138175441	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142485701	chr3:138175453-138175454	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553027889	chr3:138175506-138175507	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551889197	chr3:138175525-138175526	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566104359	chr3:138175544-138175545	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1977 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138155000-138182800	Weak transcription	Gastric	stomach
2	chr3:138156000-138175800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:138161600-138198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:138162400-138177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:138162800-138178800	Weak transcription	Fetal Intestine Small	intestine
6	chr3:138166600-138183200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:138170800-138198400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:138171000-138175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:138171000-138193000	Weak transcription	Pancreas	Pancrea
10	chr3:138171200-138185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:138171400-138198400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:138171600-138175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:138171800-138174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:138171800-138174600	Weak transcription	NHEK	skin
15	chr3:138171800-138175000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:138172400-138174800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:138172400-138176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:138172400-138181800	Weak transcription	Placenta	Placenta
19	chr3:138172800-138175800	Weak transcription	Fetal Stomach	stomach
20	chr3:138173800-138174600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr3:138173800-138175000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:138173800-138175400	Strong transcription	Brain Angular Gyrus	brain
23	chr3:138173800-138179000	Strong transcription	Lung	lung
24	chr3:138173800-138181200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:138174000-138175000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:138174200-138174600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:138174200-138180800	Enhancers	Fetal Muscle Trunk	muscle
28	chr3:138174400-138176400	Enhancers	Fetal Muscle Leg	muscle
29	chr3:138174600-138175200	Enhancers	NHEK	skin
30	chr3:138174600-138175600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:138174600-138176400	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr3:138174600-138176800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr3:138174600-138183600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:138174800-138175000	Enhancers	Fetal Brain Female	brain
35	chr3:138174800-138175200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr3:138174800-138175200	Enhancers	Osteobl	bone
37	chr3:138174800-138175400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr3:138174800-138175600	Enhancers	Colon Smooth Muscle	Colon
39	chr3:138174800-138177800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:138175000-138175200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:138175000-138175200	Enhancers	Brain Anterior Caudate	brain
42	chr3:138175000-138175200	Enhancers	Right Atrium	heart
43	chr3:138175000-138175400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:138175000-138175400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:138175000-138175400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:138175000-138175400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:138175000-138175400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:138175000-138176000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr3:138175000-138176800	Enhancers	HSMMtube	muscle
50	chr3:138175200-138175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links