Variant report

Variant	rs10275526
Chromosome Location	chr7:120716537-120716538
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	BCLAF1	chr7:120716200-120717203	K562	blood:	n/a	n/a
2	GATA2	chr7:120716326-120716744	K562	blood:	n/a	chr7:120716595-120716604
3	TAF7	chr7:120716374-120716951	K562	blood:	n/a	n/a
4	BCLAF1	chr7:120716170-120717427	K562	blood:	n/a	n/a
5	EP300	chr7:120716353-120716734	SK-N-SH_RA	brain:	n/a	n/a
6	MYC	chr7:120715951-120717318	K562	blood:	n/a	n/a
7	MAFF	chr7:120715932-120717385	K562	blood:	n/a	n/a
8	TCF12	chr7:120716210-120716873	SK-N-SH	brain:	n/a	n/a
9	HEY1	chr7:120716435-120716834	K562	blood:	n/a	n/a
10	UBTF	chr7:120716031-120717328	K562	blood:	n/a	n/a
11	JUN	chr7:120716382-120717206	K562	blood:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
12	NFYA	chr7:120716106-120716763	K562	blood:	n/a	n/a
13	NFYB	chr7:120716319-120716712	Hela-S3	cervix:	n/a	n/a
14	JUND	chr7:120716295-120716942	SK-N-SH	brain:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
15	STAT5A	chr7:120715918-120717338	K562	blood:	n/a	chr7:120717268-120717279
16	FOS	chr7:120716430-120716736	MCF10A-Er-Src	breast:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716592-120716604
17	ZNF384	chr7:120716028-120717176	K562	blood:	n/a	n/a
18	RCOR1	chr7:120716042-120717298	K562	blood:	n/a	n/a
19	ZC3H11A	chr7:120716129-120717204	K562	blood:	n/a	n/a
20	MXI1	chr7:120716347-120717289	K562	blood:	n/a	n/a
21	GTF2F1	chr7:120716410-120717030	K562	blood:	n/a	n/a
22	BCL3	chr7:120716255-120716969	K562	blood:	n/a	n/a
23	FOSL1	chr7:120716414-120716796	K562	blood:	n/a	chr7:120716592-120716603 chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716592-120716604
24	HEY1	chr7:120716371-120716881	K562	blood:	n/a	n/a
25	NFYB	chr7:120716343-120716718	K562	blood:	n/a	n/a
26	CEBPB	chr7:120715645-120717109	K562	blood:	n/a	chr7:120716443-120716456
27	MAFK	chr7:120716482-120716906	IMR90	lung:	n/a	chr7:120716664-120716675 chr7:120716664-120716675
28	POLR2A	chr7:120716299-120717378	K562	blood:	n/a	n/a
29	FOS	chr7:120716408-120716774	MCF10A-Er-Src	breast:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716592-120716604
30	STAT5A	chr7:120716297-120716773	K562	blood:	n/a	n/a
31	TAF1	chr7:120716482-120716712	SK-N-SH	brain:	n/a	n/a
32	REST	chr7:120716429-120716688	K562	blood:	n/a	n/a
33	RAD21	chr7:120716474-120716732	IMR90	lung:	n/a	n/a
34	USF1	chr7:120716379-120716802	K562	blood:	n/a	n/a
35	PBX3	chr7:120716305-120716880	SK-N-SH	brain:	n/a	n/a
36	TAL1	chr7:120716091-120717358	K562	blood:	n/a	chr7:120716502-120716510
37	MAFK	chr7:120715922-120717327	K562	blood:	n/a	chr7:120716664-120716675 chr7:120716664-120716675
38	GATA2	chr7:120716276-120716754	K562	blood:	n/a	chr7:120716595-120716604
39	POLR2A	chr7:120716389-120716761	SK-N-SH	brain:	n/a	n/a
40	NFYB	chr7:120716401-120716692	GM12878	blood:	n/a	n/a
41	EP300	chr7:120715664-120717666	K562	blood:	n/a	chr7:120717339-120717348
42	POLR2A	chr7:120716324-120716957	IMR90	lung:	n/a	n/a
43	STAT3	chr7:120716410-120716648	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:120715930-120717624	K562	blood:	n/a	n/a
45	CEBPB	chr7:120715536-120717686	K562	blood:	n/a	chr7:120716443-120716456
46	FOSL2	chr7:120716238-120716905	SK-N-SH	brain:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
47	ZMIZ1	chr7:120716041-120717244	K562	blood:	n/a	n/a
48	POLR2A	chr7:120716295-120717846	K562	blood:	n/a	n/a
49	JUND	chr7:120715905-120717432	SK-N-SH	brain:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120717341-120717350 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
50	TEAD4	chr7:120715830-120717533	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
3	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
4	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
5	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
6	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000106034	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000202225	Chromatin interaction
ENSG00000234927	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10251692	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261386	0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953924	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10953925	0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11766764	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11977285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12176609	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12666340	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670604	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670664	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246689	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs17143147	0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[ASN][1000 genomes]
rs2110280	0.87[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2192290	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896300	0.83[ASN][1000 genomes]
rs55748177	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56351875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60050503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466766	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6962509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786867	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10275526	LMOD2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
3	chr7:120706800-120718200	Weak transcription	Psoas Muscle	Psoas
4	chr7:120707200-120716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120709600-120718600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:120709600-120718800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:120710000-120721200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:120710600-120718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:120714200-120719400	Weak transcription	HepG2	liver
12	chr7:120714600-120716800	Weak transcription	Ovary	ovary
13	chr7:120715000-120719200	Weak transcription	Liver	Liver
14	chr7:120715600-120721400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:120715800-120716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:120715800-120716600	Enhancers	HMEC	breast
17	chr7:120715800-120717200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:120715800-120725000	Weak transcription	Fetal Stomach	stomach
19	chr7:120716000-120716600	Enhancers	Osteobl	bone
20	chr7:120716000-120717200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:120716000-120717400	Enhancers	Adipose Nuclei	Adipose
22	chr7:120716000-120717600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:120716200-120716600	Enhancers	Aorta	Aorta
24	chr7:120716200-120716600	Enhancers	HSMM	muscle
25	chr7:120716200-120716600	Enhancers	NHEK	skin
26	chr7:120716200-120716800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:120716200-120716800	Enhancers	Colon Smooth Muscle	Colon
28	chr7:120716200-120716800	Flanking Active TSS	NHLF	lung
29	chr7:120716200-120717200	Enhancers	NH-A	brain
30	chr7:120716200-120717400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:120716400-120716600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:120716400-120716600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:120716400-120716600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:120716400-120716800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:120716400-120716800	Enhancers	Hela-S3	cervix
36	chr7:120716400-120716800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr7:120716400-120717200	Enhancers	HSMMtube	muscle
38	chr7:120716400-120717400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:120716400-120717600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:120716400-120718200	Active TSS	K562	blood

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