Variant report

Variant	rs2164022
Chromosome Location	chr8:120730210-120730211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120730083..120732961-chr8:120733273..120735732,2	K562	blood:
2	chr8:120728056..120731650-chr8:120733855..120737131,3	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10086913	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10087723	0.80[ASN][1000 genomes]
rs10092747	0.83[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs10095282	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10096846	0.86[JPT][hapmap]
rs10101278	0.86[JPT][hapmap]
rs10103886	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10108071	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10109951	0.86[JPT][hapmap]
rs10110601	0.86[JPT][hapmap]
rs10216503	0.85[YRI][hapmap]
rs10505374	0.81[JPT][hapmap]
rs1055130	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1055131	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1055133	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10955941	0.83[YRI][hapmap]
rs12542706	0.86[JPT][hapmap]
rs12543087	0.86[JPT][hapmap]
rs12707876	0.81[ASN][1000 genomes]
rs12707880	0.86[JPT][hapmap]
rs13252708	0.83[ASN][1000 genomes]
rs13253139	0.83[ASN][1000 genomes]
rs13255420	0.81[ASN][1000 genomes]
rs13257316	0.83[YRI][hapmap]
rs13261032	0.86[JPT][hapmap]
rs13262434	0.86[JPT][hapmap]
rs13268676	0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs13270831	0.86[JPT][hapmap]
rs13272214	0.90[JPT][hapmap]
rs13272852	0.80[ASN][1000 genomes]
rs13279398	0.82[YRI][hapmap]
rs14027	0.86[JPT][hapmap]
rs1433951	0.86[JPT][hapmap]
rs1433952	0.80[ASN][1000 genomes]
rs1509348	0.80[ASN][1000 genomes]
rs1567358	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1567359	0.86[JPT][hapmap]
rs16893071	0.81[ASN][1000 genomes]
rs16893077	0.86[JPT][hapmap]
rs16893101	0.86[JPT][hapmap]
rs16893113	0.86[JPT][hapmap]
rs16893140	0.85[JPT][hapmap]
rs1828238	0.86[JPT][hapmap]
rs1976575	0.86[JPT][hapmap]
rs2043430	0.86[JPT][hapmap]
rs2043431	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2048239	0.86[JPT][hapmap]
rs2136375	0.84[ASN][1000 genomes]
rs2289011	0.86[JPT][hapmap]
rs2326377	0.86[JPT][hapmap]
rs2326378	0.86[JPT][hapmap]
rs2634	0.86[JPT][hapmap]
rs28486074	0.81[ASN][1000 genomes]
rs28634937	0.81[ASN][1000 genomes]
rs28711081	0.82[ASN][1000 genomes]
rs34070855	0.83[ASN][1000 genomes]
rs35148850	0.82[AMR][1000 genomes]
rs35521072	0.82[ASN][1000 genomes]
rs3812463	0.86[JPT][hapmap]
rs4380974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871577	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871578	0.86[JPT][hapmap]
rs4871587	0.96[CEU][hapmap]
rs4871595	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4871597	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871629	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4871634	0.86[JPT][hapmap]
rs4871648	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6469841	0.82[ASN][1000 genomes]
rs6469846	0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs6469849	0.86[JPT][hapmap]
rs6469852	0.86[JPT][hapmap]
rs6469853	0.86[JPT][hapmap]
rs6982522	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983932	0.86[JPT][hapmap]
rs6987099	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989559	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6989791	0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs6992632	0.82[ASN][1000 genomes]
rs6997976	0.82[ASN][1000 genomes]
rs7005200	0.82[ASN][1000 genomes]
rs7009073	0.86[JPT][hapmap]
rs7011974	0.86[JPT][hapmap]
rs7012791	0.80[ASN][1000 genomes]
rs7012857	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7015470	0.82[YRI][hapmap]
rs7017010	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7017279	0.86[JPT][hapmap]
rs7813438	0.82[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap]
rs7813651	0.86[JPT][hapmap]
rs7813680	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs7821501	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7825803	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7827482	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7829198	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832755	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833112	0.86[JPT][hapmap]
rs7833490	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7833706	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7837213	0.86[JPT][hapmap]
rs7837589	0.86[JPT][hapmap]
rs7839110	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9297603	0.80[ASN][1000 genomes]
rs9297604	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9297605	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9693207	0.86[JPT][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2164022	TAF2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120721600-120731400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:120729600-120730400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:120729600-120730400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:120729800-120730400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:120730000-120730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:120730000-120730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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