Variant report

Variant	rs13071132
Chromosome Location	chr3:134069962-134069963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:134069580-134070283	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr3:134069556-134070320	ECC-1	luminal epithelium:	n/a	chr3:134070094-134070111
3	POLR2A	chr3:134069831-134070066	H1-hESC	embryonic stem cell:	n/a	n/a
4	ESR1	chr3:134069763-134070326	T-47D	breast:	n/a	n/a
5	POLR2A	chr3:134069330-134070156	ECC-1	luminal epithelium:	n/a	n/a
6	HDAC2	chr3:134069707-134070357	MCF-7	breast:	n/a	chr3:134070195-134070204
7	FOSL2	chr3:134069580-134070242	MCF-7	breast:	n/a	n/a
8	TCF7L2	chr3:134069788-134070344	MCF-7	breast:	n/a	chr3:134070042-134070056
9	FOS	chr3:134069764-134070050	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr3:134069782-134070066	MCF10A-Er-Src	breast:	n/a	chr3:134069852-134069861
11	NFIC	chr3:134069578-134070506	ECC-1	luminal epithelium:	n/a	chr3:134070094-134070111
12	MAX	chr3:134069634-134070243	ECC-1	luminal epithelium:	n/a	chr3:134069852-134069861
13	RAD21	chr3:134069674-134070382	MCF-7	breast:	n/a	n/a
14	SP1	chr3:134069500-134070311	HCT-116	colon:	n/a	chr3:134069739-134069753 chr3:134070106-134070120
15	MYC	chr3:134069791-134070021	MCF-7	breast:	n/a	chr3:134069852-134069861
16	NR2F2	chr3:134069662-134070462	MCF-7	breast:	n/a	n/a
17	ZNF217	chr3:134069744-134070400	MCF-7	breast:	n/a	n/a
18	TCF12	chr3:134069386-134070624	MCF-7	breast:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
19	MAX	chr3:134069551-134070304	HCT-116	colon:	n/a	chr3:134069852-134069861
20	ELF1	chr3:134069177-134070324	MCF-7	breast:	n/a	n/a
21	FOS	chr3:134069840-134070030	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr3:134069439-134070162	MCF-7	breast:	n/a	n/a
23	FOSL2	chr3:134069580-134070235	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:134069604-134070121	MCF-7	breast:	n/a	n/a
25	MAX	chr3:134069617-134070317	ECC-1	luminal epithelium:	n/a	chr3:134069852-134069861
26	MAX	chr3:134069542-134070379	HCT-116	colon:	n/a	chr3:134069852-134069861
27	JUND	chr3:134069592-134070358	MCF-7	breast:	n/a	n/a
28	MYC	chr3:134069722-134070064	MCF-7	breast:	n/a	chr3:134069852-134069861
29	TCF12	chr3:134069540-134070380	ECC-1	luminal epithelium:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
30	POLR2A	chr3:134069682-134070124	HCT-116	colon:	n/a	n/a
31	CEBPB	chr3:134069582-134070253	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr3:134069593-134070439	MCF-7	breast:	n/a	n/a
33	MAX	chr3:134069228-134070274	MCF-7	breast:	n/a	chr3:134069852-134069861
34	RAD21	chr3:134069609-134070221	ECC-1	luminal epithelium:	n/a	n/a
35	FOXA1	chr3:134069750-134070314	T-47D	breast:	n/a	n/a
36	TCF12	chr3:134069464-134070399	ECC-1	luminal epithelium:	n/a	chr3:134069806-134069813 chr3:134069732-134069742 chr3:134070314-134070324
37	GATA3	chr3:134069707-134070342	T-47D	breast:	n/a	n/a
38	JUND	chr3:134069590-134070320	MCF-7	breast:	n/a	n/a
39	POLR2A	chr3:134069635-134070133	MCF-7	breast:	n/a	n/a
40	MYC	chr3:134069807-134070041	MCF10A-Er-Src	breast:	n/a	chr3:134069852-134069861
41	EP300	chr3:134069652-134070263	T-47D	breast:	n/a	chr3:134070194-134070204
42	ELF1	chr3:134069576-134070459	MCF-7	breast:	n/a	n/a
43	JUND	chr3:134069558-134070232	HCT-116	colon:	n/a	n/a
44	EP300	chr3:134069604-134070435	MCF-7	breast:	n/a	chr3:134070194-134070204 chr3:134070406-134070420
45	TEAD4	chr3:134069717-134070252	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr3:134069576-134070432	MCF-7	breast:	n/a	chr3:134069852-134069861
47	YY1	chr3:134069811-134069998	HCT-116	colon:	n/a	n/a
48	FOXA1	chr3:134069769-134070376	T-47D	breast:	n/a	n/a
49	ESR1	chr3:134069876-134070369	T-47D	breast:	n/a	n/a
50	GATA3	chr3:134069560-134070443	MCF-7	breast:	n/a	chr3:134069698-134069707

No.	Distal block	Cell Line	Cell type
1	chr3:134068339..134071562-chr3:134203031..134205941,6	MCF-7	breast:
2	chr3:134019644..134021494-chr3:134068815..134070339,2	MCF-7	breast:
3	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
4	chr3:134066447..134072766-chr3:134202428..134206376,9	MCF-7	breast:
5	chr3:134031725..134032254-chr3:134069181..134070038,2	MCF-7	breast:
6	chr3:134046187..134047077-chr3:134069663..134070556,4	MCF-7	breast:
7	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
8	chr3:134046045..134047071-chr3:134069689..134070482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260633	TF binding region
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000163785	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10935116	1.00[CHB][hapmap]
rs11707704	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917363	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11919447	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11923513	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11928672	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11928742	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11928907	1.00[ASN][1000 genomes]
rs12487438	1.00[CHB][hapmap]
rs13069766	1.00[ASN][1000 genomes]
rs13078237	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13084853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090504	1.00[ASN][1000 genomes]
rs1498730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312996	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17313003	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34006849	1.00[ASN][1000 genomes]
rs34524468	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34549392	1.00[ASN][1000 genomes]
rs35098409	1.00[ASN][1000 genomes]
rs35471660	1.00[ASN][1000 genomes]
rs35527623	1.00[ASN][1000 genomes]
rs35558600	1.00[ASN][1000 genomes]
rs35878592	1.00[ASN][1000 genomes]
rs3846052	1.00[ASN][1000 genomes]
rs3913262	1.00[ASN][1000 genomes]
rs4339087	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5002434	1.00[ASN][1000 genomes]
rs5002435	1.00[ASN][1000 genomes]
rs5002436	1.00[ASN][1000 genomes]
rs5002437	1.00[ASN][1000 genomes]
rs55682444	1.00[ASN][1000 genomes]
rs56019901	1.00[ASN][1000 genomes]
rs59458665	1.00[ASN][1000 genomes]
rs61145443	1.00[ASN][1000 genomes]
rs62271221	1.00[ASN][1000 genomes]
rs6439474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6439476	1.00[ASN][1000 genomes]
rs6768709	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6772791	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6776727	1.00[ASN][1000 genomes]
rs6784751	0.81[AMR][1000 genomes]
rs6804439	1.00[ASN][1000 genomes]
rs6809909	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71331755	1.00[ASN][1000 genomes]
rs72986454	1.00[ASN][1000 genomes]
rs73215399	1.00[ASN][1000 genomes]
rs7609766	1.00[ASN][1000 genomes]
rs7613323	1.00[ASN][1000 genomes]
rs7613440	1.00[ASN][1000 genomes]
rs7613450	1.00[ASN][1000 genomes]
rs7614069	1.00[ASN][1000 genomes]
rs7636249	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7637889	1.00[CHB][hapmap]
rs7638751	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7642519	1.00[ASN][1000 genomes]
rs7647682	1.00[CHB][hapmap]
rs7647778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7651578	1.00[ASN][1000 genomes]
rs9826364	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv967066	chr3:134069560-134071258	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134055800-134071000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:134060600-134070000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:134060800-134072200	Weak transcription	Fetal Kidney	kidney
4	chr3:134061400-134073000	Weak transcription	Fetal Brain Male	brain
5	chr3:134065800-134071400	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:134065800-134071400	Enhancers	Fetal Intestine Large	intestine
7	chr3:134065800-134071600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:134065800-134072400	Weak transcription	Spleen	Spleen
9	chr3:134066000-134072800	Enhancers	Duodenum Mucosa	Duodenum
10	chr3:134066200-134071000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:134066400-134071400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:134066400-134071600	Weak transcription	Fetal Lung	lung
13	chr3:134066400-134071600	Enhancers	Placenta	Placenta
14	chr3:134066400-134073000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:134066600-134071800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:134066600-134076200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:134066800-134073000	Weak transcription	Ovary	ovary
18	chr3:134067000-134073400	Enhancers	Pancreas	Pancrea
19	chr3:134067200-134071600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:134067200-134071800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:134067200-134072000	Enhancers	HMEC	breast
22	chr3:134067200-134072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:134067200-134073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:134067400-134073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:134067400-134073200	Enhancers	Esophagus	oesophagus
26	chr3:134067600-134072800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:134067600-134073200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:134067600-134076200	Strong transcription	Brain Germinal Matrix	brain
29	chr3:134067800-134072400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:134067800-134073000	Weak transcription	Brain Anterior Caudate	brain
31	chr3:134067800-134073200	Weak transcription	NH-A	brain
32	chr3:134068200-134070200	Weak transcription	Osteobl	bone
33	chr3:134068200-134071000	Weak transcription	NHLF	lung
34	chr3:134068400-134070200	Weak transcription	NHDF-Ad	bronchial
35	chr3:134068400-134070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:134068400-134071200	Weak transcription	Fetal Heart	heart
37	chr3:134068400-134072800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:134068400-134073200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:134068400-134074200	Genic enhancers	Fetal Intestine Small	intestine
40	chr3:134068400-134076000	Strong transcription	Fetal Stomach	stomach
41	chr3:134068800-134071800	Enhancers	NHEK	skin
42	chr3:134068800-134073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:134069000-134072200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr3:134069000-134074000	Strong transcription	Fetal Brain Female	brain
45	chr3:134069000-134074600	Enhancers	Psoas Muscle	Psoas
46	chr3:134069000-134076000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:134069200-134070400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:134069200-134070400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr3:134069200-134070600	Enhancers	HSMM	muscle
50	chr3:134069200-134071800	Enhancers	HSMMtube	muscle

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