Variant report

Variant	rs10953671
Chromosome Location	chr7:110585307-110585308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10242939	0.94[CHB][hapmap]
rs10249084	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10252294	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252992	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10257592	0.82[CEU][hapmap]
rs11980847	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs16873249	0.82[CHB][hapmap]
rs17158169	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17158195	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158197	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17158220	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17158224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17158226	1.00[CHB][hapmap]
rs2109862	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[EUR][1000 genomes]
rs2190530	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34140899	0.96[EUR][1000 genomes]
rs4263692	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4338033	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs58932250	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59790783	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60109910	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62464015	0.96[EUR][1000 genomes]
rs62464030	0.96[EUR][1000 genomes]
rs62464033	0.93[EUR][1000 genomes]
rs62464035	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62464036	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62464038	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958325	0.94[CHB][hapmap]
rs799630	0.84[AMR][1000 genomes]
rs799633	0.84[AMR][1000 genomes]
rs9656179	1.00[CEU][hapmap];1.00[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	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv608147	chr7:110292046-110617845	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888972	chr7:110470629-110635497	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv888974	chr7:110516659-110660055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110561800-110588800	Weak transcription	Left Ventricle	heart
2	chr7:110567600-110614400	Weak transcription	Psoas Muscle	Psoas
3	chr7:110583000-110585600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:110583200-110586400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:110583400-110585600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:110583400-110586400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:110583400-110586400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:110583600-110585400	Weak transcription	K562	blood
9	chr7:110583800-110586400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:110584400-110585600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:110584400-110586200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:110584400-110586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:110584400-110586400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:110584600-110585400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:110584600-110586400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:110584800-110587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:110584800-110587600	Weak transcription	Fetal Heart	heart
18	chr7:110585000-110586000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:110585000-110586200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:110585200-110585600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:110585200-110585600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:110585200-110586000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:110585200-110586200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:110585200-110586200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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