Variant report

Variant	rs2056647
Chromosome Location	chr7:71114444-71114445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10229929	0.84[AFR][1000 genomes]
rs10245252	0.85[JPT][hapmap]
rs10257695	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs10262605	0.85[ASN][1000 genomes]
rs10271559	0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10950273	0.81[AFR][1000 genomes]
rs11760841	0.90[ASN][1000 genomes]
rs11762927	0.86[YRI][hapmap]
rs11765732	0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs11769216	0.81[ASN][1000 genomes]
rs12536749	0.86[YRI][hapmap]
rs12699060	0.86[YRI][hapmap]
rs1548763	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs1852184	0.84[AFR][1000 genomes]
rs1965547	0.81[AFR][1000 genomes]
rs1965548	0.81[AFR][1000 genomes]
rs1973820	0.82[CHD][hapmap];0.89[LWK][hapmap];0.84[AFR][1000 genomes]
rs2140890	0.89[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs3857700	0.89[ASW][hapmap];0.80[CEU][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3857701	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3973922	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs4337983	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs605586	0.89[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs605637	0.83[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs619096	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs6949744	0.85[JPT][hapmap]
rs6978051	0.81[ASN][1000 genomes]
rs73187191	0.88[ASN][1000 genomes]
rs73187195	0.88[ASN][1000 genomes]
rs7776521	0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs7779790	0.80[ASN][1000 genomes]
rs9638298	0.80[CEU][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71102000-71114600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:71109000-71117600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71112800-71115000	ZNF genes & repeats	Aorta	Aorta
4	chr7:71112800-71115000	ZNF genes & repeats	Fetal Muscle Leg	muscle
5	chr7:71112800-71142600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:71113600-71114600	ZNF genes & repeats	Left Ventricle	heart
7	chr7:71113800-71114800	ZNF genes & repeats	Spleen	Spleen
8	chr7:71114000-71114600	ZNF genes & repeats	Ovary	ovary
9	chr7:71114000-71116400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:71114000-71127200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:71114200-71114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:71114200-71120400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:71114400-71115600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:71114400-71115600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:71114400-71116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:71114400-71117000	Weak transcription	H9 Cell Line	embryonic stem cell

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