Variant report

Variant	rs6955049
Chromosome Location	chr7:71497708-71497709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1003685	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1017047	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10229928	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs10231062	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10252249	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265141	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273495	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10277807	0.85[GIH][hapmap]
rs10280279	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10280568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10280768	0.86[YRI][hapmap]
rs1034806	0.82[CHD][hapmap]
rs12666891	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12671441	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17144232	0.86[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17144240	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs17144279	0.88[JPT][hapmap];0.83[YRI][hapmap]
rs17144283	0.86[JPT][hapmap];0.89[YRI][hapmap]
rs2867564	0.82[CHD][hapmap]
rs28679767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57375990	0.82[ASN][1000 genomes]
rs58064021	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58173010	0.82[ASN][1000 genomes]
rs58251256	0.81[ASN][1000 genomes]
rs59254802	0.82[ASN][1000 genomes]
rs59329653	0.95[EUR][1000 genomes]
rs59381375	0.84[ASN][1000 genomes]
rs6965309	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72506800	0.80[ASN][1000 genomes]
rs72506801	0.81[ASN][1000 genomes]
rs73368174	0.84[ASN][1000 genomes]
rs844677	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844678	0.81[ASN][1000 genomes]
rs844679	0.84[ASN][1000 genomes]
rs844684	0.80[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs844685	0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs844686	0.84[ASN][1000 genomes]
rs844701	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs844705	0.82[JPT][hapmap]
rs844712	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs844785	0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs844790	0.82[JPT][hapmap]
rs844791	0.82[JPT][hapmap]
rs844793	0.82[JPT][hapmap]
rs844795	0.82[JPT][hapmap]
rs844796	0.82[JPT][hapmap]
rs844797	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71484600-71498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:71490800-71498400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:71490800-71498400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:71493400-71503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:71493600-71498400	Weak transcription	Thymus	Thymus
6	chr7:71494400-71497800	Weak transcription	Fetal Brain Male	brain
7	chr7:71495200-71497800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:71495400-71497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:71495400-71502400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:71495800-71497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71496600-71497800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:71497200-71499000	Enhancers	Fetal Heart	heart
13	chr7:71497400-71498400	Enhancers	Brain Hippocampus Middle	brain
14	chr7:71497400-71499000	Enhancers	Dnd41	blood
15	chr7:71497600-71498000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:71497600-71498000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:71497600-71498400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:71497600-71498600	Genic enhancers	Fetal Thymus	thymus
19	chr7:71497600-71498600	Weak transcription	Left Ventricle	heart

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