Variant report

Variant	rs10955631
Chromosome Location	chr8:113687481-113687482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10105569	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10111722	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1030296	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997584	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13281821	0.93[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2355822	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs4373545	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes]
rs56861329	0.82[AMR][1000 genomes]
rs59155160	0.82[AMR][1000 genomes]
rs6469428	0.82[AMR][1000 genomes]
rs6469433	0.82[AMR][1000 genomes]
rs6985219	0.92[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6992564	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.82[AMR][1000 genomes]
rs7001722	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003170	0.92[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7003350	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7011082	0.82[AMR][1000 genomes]
rs7813569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7821462	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829649	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7839990	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113683800-113688600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:113684200-113688000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:113684200-113688000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:113684600-113687600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:113684600-113688200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:113684600-113688400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:113684600-113690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:113685400-113687800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:113686000-113688000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:113686600-113688000	Weak transcription	Psoas Muscle	Psoas
11	chr8:113686600-113688400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:113686800-113687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:113686800-113687800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:113686800-113688000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:113686800-113688000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:113686800-113688000	Enhancers	HMEC	breast
17	chr8:113686800-113688000	Enhancers	NHEK	skin
18	chr8:113687000-113688600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:113687000-113690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:113687000-113691400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:113687000-113699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:113687400-113687800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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