Variant report

Variant	nsv967066
Chromosome Location	chr3:134069560-134071258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:134070882-134071709	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:134070305-134071634	Hela-S3	cervix:	n/a	chr3:134071248-134071259
3	CEBPB	chr3:134070898-134071383	H1-hESC	embryonic stem cell:	n/a	chr3:134071248-134071259
4	CEBPB	chr3:134070827-134071748	MCF-7	breast:	n/a	chr3:134071248-134071259
5	CEBPB	chr3:134070765-134071568	A549	lung:	n/a	chr3:134071248-134071259
6	CEBPB	chr3:134070931-134071707	HCT-116	colon:	n/a	chr3:134071248-134071259
7	CEBPB	chr3:134071098-134071447	HepG2	liver:	n/a	chr3:134071248-134071259
8	CEBPB	chr3:134070827-134071597	A549	lung:	n/a	chr3:134071248-134071259
9	CEBPB	chr3:134070951-134071536	HepG2	liver:	n/a	chr3:134071248-134071259
10	CEBPB	chr3:134070832-134071723	HCT-116	colon:	n/a	chr3:134071248-134071259
11	CEBPB	chr3:134070846-134071674	MCF-7	breast:	n/a	chr3:134071248-134071259
12	CEBPB	chr3:134070762-134071612	ECC-1	luminal epithelium:	n/a	chr3:134071248-134071259
13	CEBPB	chr3:134071043-134071530	A549	lung:	n/a	chr3:134071248-134071259
14	CEBPB	chr3:134070744-134071586	IMR90	lung:	n/a	chr3:134071248-134071259
15	CEBPB	chr3:134069582-134070253	MCF-7	breast:	n/a	n/a
16	CEBPB	chr3:134070971-134071596	HepG2	liver:	n/a	chr3:134071248-134071259
17	CEBPB	chr3:134070852-134071594	ECC-1	luminal epithelium:	n/a	chr3:134071248-134071259
18	CHD1	chr3:134070900-134094634	IMR90	lung:	n/a	chr3:134093783-134093793 chr3:134092557-134092567 chr3:134083055-134083065
19	CHD2	chr3:134071018-134071748	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr3:134069979-134070347	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr3:134069800-134069950	NHEK	skin:	n/a	n/a
22	CTCF	chr3:134069740-134069890	HMEC	breast:	n/a	n/a
23	CTCF	chr3:134069760-134069910	SAEC	small airway:	n/a	n/a
24	ELF1	chr3:134070988-134071666	MCF-7	breast:	n/a	n/a
25	ELF1	chr3:134069177-134070324	MCF-7	breast:	n/a	n/a
26	ELF1	chr3:134069576-134070459	MCF-7	breast:	n/a	n/a
27	EP300	chr3:134070926-134071513	HepG2	liver:	n/a	chr3:134070968-134070982
28	EP300	chr3:134070805-134071609	Hela-S3	cervix:	n/a	chr3:134070968-134070982
29	EP300	chr3:134071104-134071709	MCF-7	breast:	n/a	chr3:134071683-134071697
30	EP300	chr3:134069506-134070423	ECC-1	luminal epithelium:	n/a	chr3:134070194-134070204 chr3:134070406-134070420
31	EP300	chr3:134069652-134070263	T-47D	breast:	n/a	chr3:134070194-134070204
32	EP300	chr3:134070967-134071715	MCF-7	breast:	n/a	chr3:134070968-134070982 chr3:134071683-134071697
33	EP300	chr3:134069604-134070435	MCF-7	breast:	n/a	chr3:134070194-134070204 chr3:134070406-134070420
34	EP300	chr3:134071117-134071476	HepG2	liver:	n/a	n/a
35	EP300	chr3:134070899-134071798	ECC-1	luminal epithelium:	n/a	chr3:134070968-134070982 chr3:134071683-134071697
36	EP300	chr3:134069587-134070374	T-47D	breast:	n/a	chr3:134070194-134070204
37	EP300	chr3:134069626-134070449	MCF-7	breast:	n/a	chr3:134070194-134070204 chr3:134070406-134070420
38	EP300	chr3:134070916-134071540	A549	lung:	n/a	chr3:134070968-134070982
39	EP300	chr3:134071017-134071594	T-47D	breast:	n/a	n/a
40	EP300	chr3:134071057-134071618	ECC-1	luminal epithelium:	n/a	n/a
41	EP300	chr3:134070904-134071705	T-47D	breast:	n/a	chr3:134070968-134070982 chr3:134071683-134071697
42	ESR1	chr3:134071062-134071516	T-47D	breast:	n/a	n/a
43	ESR1	chr3:134071065-134071472	T-47D	breast:	n/a	n/a
44	ESR1	chr3:134069763-134070326	T-47D	breast:	n/a	n/a
45	ESR1	chr3:134071128-134071520	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr3:134071100-134071532	T-47D	breast:	n/a	n/a
47	ESR1	chr3:134071085-134071534	T-47D	breast:	n/a	n/a
48	ESR1	chr3:134071121-134071591	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr3:134069876-134070369	T-47D	breast:	n/a	n/a
50	ESR1	chr3:134071099-134071581	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134069894-134069944	HEK293	kidney:	embryo
2	chr3:134069894-134069944	GM12892	blood:	n/a
3	chr3:134069894-134069944	H1-hESC	embryonic stem cell:	embryo
4	chr3:134069894-134069944	GM12891	blood:	n/a
5	chr3:134069894-134069944	Hela-S3	cervix:	n/a
6	chr3:134069894-134069944	Caco-2	colon:	n/a
7	chr3:134069894-134069944	NH-A	brain:	n/a
8	chr3:134069894-134069944	SK-N-MC	brain:	n/a
9	chr3:134069894-134069944	HAEpiC	amniotic membrane:	n/a
10	chr3:134069894-134069944	HCM	heart:	n/a
11	chr3:134069894-134069944	A549	lung:	n/a
12	chr3:134069894-134069944	NT2-D1	testis:	n/a
13	chr3:134069894-134069944	HMEC	breast:	n/a
14	chr3:134069894-134069944	AoSMC	blood vessel:	n/a
15	chr3:134069894-134069944	SKMC	muscle:	n/a
16	chr3:134069894-134069944	GM06990	blood:	n/a
17	chr3:134069894-134069944	AG10803	skin:	n/a
18	chr3:134069894-134069944	HL-60	blood:	n/a
19	chr3:134069894-134069944	AG04449	skin:	fetal
20	chr3:134069894-134069944	HCPEpiC	choroid plexus:	n/a
21	chr3:134069894-134069944	HRE	kidney:	n/a
22	chr3:134069894-134069944	PFSK-1	brain:	n/a
23	chr3:134069894-134069944	LNCaP	prostate:	n/a
24	chr3:134069894-134069944	NHDF-neo	bronchial:	n/a
25	chr3:134069894-134069944	AG04450	lung:	fetal
26	chr3:134069894-134069944	HCT-116	colon:	n/a
27	chr3:134069894-134069944	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:134069894-134069944	SK-N-SH_RA	brain:	n/a
29	chr3:134069894-134069944	SK-N-SH	brain:	n/a
30	chr3:134069894-134069944	K562	blood:	n/a
31	chr3:134069894-134069944	AG09319	gingival:	n/a
32	chr3:134069894-134069944	ECC-1	luminal epithelium:	n/a
33	chr3:134069894-134069944	MCF10A-Er-Src	breast:	n/a
34	chr3:134069894-134069944	RPTEC	kidney:	n/a
35	chr3:134069894-134069944	HIPEpiC	eye:	n/a
36	chr3:134069894-134069944	NHBE	bronchial:	n/a
37	chr3:134069894-134069944	CMK	blood:	n/a
38	chr3:134069894-134069944	BJ	skin:	n/a
39	chr3:134069894-134069944	PANC-1	pancreas:	n/a
40	chr3:134069894-134069944	IMR90	lung:	fetal
41	chr3:134069894-134069944	U87	brain:	n/a
42	chr3:134069894-134069944	HEEpiC	esophagus:	n/a
43	chr3:134069894-134069944	HepG2	liver:	n/a
44	chr3:134069894-134069944	PrEC	prostate:	n/a
45	chr3:134069894-134069944	HRCEpiC	kidney:	n/a
46	chr3:134069894-134069944	HCF	heart:	n/a
47	chr3:134069894-134069944	BE2_C	brain:	n/a
48	chr3:134069894-134069944	HUVEC	blood vessel:	n/a
49	chr3:134069894-134069944	Jurkat	blood:	n/a
50	chr3:134069894-134069944	HNPCEpiC	eye:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
2	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
3	chr3:134046045..134047071-chr3:134069689..134070482,4	MCF-7	breast:
4	chr3:134071025..134073147-chr3:134182309..134183857,2	MCF-7	breast:
5	chr3:134019644..134021494-chr3:134068815..134070339,2	MCF-7	breast:
6	chr3:134031946..134032540-chr3:134070876..134071500,2	MCF-7	breast:
7	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
8	chr3:134046187..134047077-chr3:134069663..134070556,4	MCF-7	breast:
9	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
10	chr3:134071144..134071780-chr3:134093192..134094138,3	MCF-7	breast:
11	chr3:134031725..134032254-chr3:134069181..134070038,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMOTL2-3	chr3:134070694-134070955	NONHSAT092235

No data

Variant related genes	Relation type
RPL39P5	TF binding region
ENSG00000260633	TF binding region
RPL39P5	CpG island
ENSG00000260633	CpG island
ENSG00000163785	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000240006	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539606499	chr3:134069566-134069567	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs192090279	chr3:134069599-134069600	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs533674287	chr3:134069643-134069644	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs9853621	chr3:134069661-134069662	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs182871571	chr3:134069673-134069674	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs529476713	chr3:134069682-134069683	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs549623193	chr3:134069727-134069728	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs568141546	chr3:134069740-134069741	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs187464557	chr3:134069750-134069751	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112865374	chr3:134069753-134069754	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs570304382	chr3:134069830-134069831	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs539424572	chr3:134069845-134069846	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552956138	chr3:134069895-134069896	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs13071132	chr3:134069962-134069963	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190054180	chr3:134069965-134069966	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs555175898	chr3:134070004-134070005	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs377277922	chr3:134070111-134070112	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs527674244	chr3:134070182-134070183	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs151325620	chr3:134070186-134070187	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs140513023	chr3:134070196-134070197	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs1111516	chr3:134070204-134070205	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182422583	chr3:134070230-134070231	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs188073706	chr3:134070257-134070258	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs536488989	chr3:134070259-134070260	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs373297285	chr3:134070336-134070337	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs550335188	chr3:134070384-134070385	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs145616445	chr3:134070387-134070388	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs543230557	chr3:134070388-134070389	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs563119817	chr3:134070428-134070429	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs7643419	chr3:134070429-134070430	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550361370	chr3:134070432-134070433	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs570539752	chr3:134070444-134070445	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs60234576	chr3:134070471-134070472	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs546602266	chr3:134070542-134070543	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs34098984	chr3:134070543-134070544	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535399343	chr3:134070608-134070609	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs555139251	chr3:134070618-134070619	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs371943810	chr3:134070671-134070672	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs146581652	chr3:134070756-134070757	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs376631003	chr3:134070802-134070803	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs558195656	chr3:134070886-134070887	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
42	rs537660241	chr3:134070940-134070941	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs571717125	chr3:134070990-134070991	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs578065876	chr3:134071007-134071008	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540243675	chr3:134071019-134071020	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs534273177	chr3:134071020-134071021	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554174336	chr3:134071021-134071022	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs574380808	chr3:134071040-134071041	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs6439477	chr3:134071042-134071043	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs553210312	chr3:134071061-134071062	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134054200-134069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:134055800-134071000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:134060600-134070000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:134060800-134072200	Weak transcription	Fetal Kidney	kidney
5	chr3:134061400-134073000	Weak transcription	Fetal Brain Male	brain
6	chr3:134065800-134071400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:134065800-134071400	Enhancers	Fetal Intestine Large	intestine
8	chr3:134065800-134071600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:134065800-134072400	Weak transcription	Spleen	Spleen
10	chr3:134066000-134072800	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:134066200-134069600	Weak transcription	A549	lung
12	chr3:134066200-134071000	Weak transcription	Brain Substantia Nigra	brain
13	chr3:134066400-134071400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:134066400-134071600	Weak transcription	Fetal Lung	lung
15	chr3:134066400-134071600	Enhancers	Placenta	Placenta
16	chr3:134066400-134073000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:134066600-134069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:134066600-134071800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:134066600-134076200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:134066800-134069600	Weak transcription	HepG2	liver
21	chr3:134066800-134073000	Weak transcription	Ovary	ovary
22	chr3:134067000-134073400	Enhancers	Pancreas	Pancrea
23	chr3:134067200-134071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:134067200-134071800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:134067200-134072000	Enhancers	HMEC	breast
26	chr3:134067200-134072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:134067200-134073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:134067400-134073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:134067400-134073200	Enhancers	Esophagus	oesophagus
30	chr3:134067600-134072800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:134067600-134073200	Weak transcription	Brain Angular Gyrus	brain
32	chr3:134067600-134076200	Strong transcription	Brain Germinal Matrix	brain
33	chr3:134067800-134069800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:134067800-134072400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:134067800-134073000	Weak transcription	Brain Anterior Caudate	brain
36	chr3:134067800-134073200	Weak transcription	NH-A	brain
37	chr3:134068000-134069800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:134068200-134069800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:134068200-134069800	Weak transcription	Aorta	Aorta
40	chr3:134068200-134069800	Weak transcription	Hela-S3	cervix
41	chr3:134068200-134070200	Weak transcription	Osteobl	bone
42	chr3:134068200-134071000	Weak transcription	NHLF	lung
43	chr3:134068400-134070200	Weak transcription	NHDF-Ad	bronchial
44	chr3:134068400-134070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:134068400-134071200	Weak transcription	Fetal Heart	heart
46	chr3:134068400-134072800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:134068400-134073200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:134068400-134074200	Genic enhancers	Fetal Intestine Small	intestine
49	chr3:134068400-134076000	Strong transcription	Fetal Stomach	stomach
50	chr3:134068800-134071800	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links