Variant report

Variant	rs10231333
Chromosome Location	chr7:71564054-71564055
allele	C/G
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	GATA2	chr7:71563468-71564219	SH-SY5Y	brain:	n/a	n/a
2	REST	chr7:71563682-71564288	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:71563771-71564149	SK-N-SH	brain:	n/a	n/a
4	YY1	chr7:71563663-71564108	SK-N-SH_RA	brain:	n/a	n/a
5	YY1	chr7:71563753-71564118	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr7:71563674-71564175	SK-N-SH_RA	brain:	n/a	chr7:71563863-71563873
7	USF1	chr7:71563866-71564183	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr7:71563572-71564280	SK-N-SH_RA	brain:	n/a	n/a
9	TCF12	chr7:71563686-71564306	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr7:71563690-71564444	SK-N-SH	brain:	n/a	n/a
11	REST	chr7:71563692-71564152	SK-N-SH	brain:	n/a	n/a
12	USF1	chr7:71563882-71564183	SK-N-SH_RA	brain:	n/a	n/a
13	RAD21	chr7:71563704-71564260	SK-N-SH_RA	brain:	n/a	chr7:71563863-71563873 chr7:71564164-71564176
14	EP300	chr7:71563676-71564296	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:71564000-71564150	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71549650..71551366-chr7:71562854..71564713,2	K562	blood:

Variant related genes	Relation type
ABCF2P2	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10215588	0.91[JPT][hapmap]
rs10225060	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10240685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10243717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10248170	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10251441	0.92[JPT][hapmap]
rs10252717	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10254309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10255136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10256017	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10259034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10260183	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10260420	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10260767	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10268010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281262	1.00[JPT][hapmap]
rs10807741	0.87[ASN][1000 genomes]
rs10807742	0.80[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10807744	0.91[JPT][hapmap]
rs10950291	0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10950292	0.81[ASN][1000 genomes]
rs10950293	0.81[ASN][1000 genomes]
rs10950294	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10950295	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10950297	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10950298	1.00[JPT][hapmap]
rs11767138	0.85[ASN][1000 genomes]
rs11772246	0.91[JPT][hapmap]
rs11772542	0.81[ASN][1000 genomes]
rs11972568	1.00[JPT][hapmap]
rs11982267	0.80[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11983124	0.91[JPT][hapmap]
rs12538529	0.82[JPT][hapmap]
rs12666578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12668623	0.85[AMR][1000 genomes]
rs12668647	0.83[AMR][1000 genomes]
rs12673109	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13224539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13227792	0.81[ASN][1000 genomes]
rs13231587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13231944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17144357	0.82[JPT][hapmap]
rs17144373	0.84[JPT][hapmap]
rs1852088	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1852089	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040869	1.00[JPT][hapmap]
rs28411695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2867567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33986788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34518405	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34655504	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs34801868	0.92[JPT][hapmap]
rs34862805	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34913023	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35509687	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35830920	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35897134	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457209	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4717628	0.82[JPT][hapmap]
rs4719207	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4719209	0.80[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4719216	0.91[JPT][hapmap]
rs55895910	0.81[ASN][1000 genomes]
rs56410383	0.85[ASN][1000 genomes]
rs58547626	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59086558	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60902167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61193914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946230	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6952558	0.91[JPT][hapmap]
rs6959686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71551247	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73124365	0.81[ASN][1000 genomes]
rs73124374	0.81[ASN][1000 genomes]
rs73124389	0.83[ASN][1000 genomes]
rs7796985	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797796	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7799436	0.84[CEU][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv831023	chr7:71443549-71588033	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv531373	chr7:71487076-71765613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1015848	chr7:71552185-71736068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv538942	chr7:71552185-71736068	ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71558400-71572800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71559000-71571400	Strong transcription	Fetal Thymus	thymus
3	chr7:71561200-71573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71561600-71568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71561600-71570800	Weak transcription	Pancreas	Pancrea
6	chr7:71563000-71564200	Strong transcription	Thymus	Thymus
7	chr7:71563400-71564400	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:71563400-71565200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:71563600-71564200	Enhancers	Fetal Muscle Leg	muscle
10	chr7:71563800-71564200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr7:71563800-71564600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:71563800-71564800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:71564000-71564400	Enhancers	Brain Anterior Caudate	brain
14	chr7:71564000-71564800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:71564000-71564800	Flanking Active TSS	NHDF-Ad	bronchial
16	chr7:71564000-71564800	Flanking Active TSS	Osteobl	bone
17	chr7:71564000-71566000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links