Variant report

Variant	rs2979265
Chromosome Location	chr8:8858717-8858718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10104303	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10105455	0.84[ASN][1000 genomes]
rs10113609	0.84[ASN][1000 genomes]
rs1025394	0.85[ASN][1000 genomes]
rs1025395	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1036081	0.96[ASN][1000 genomes]
rs1045527	0.85[CEU][hapmap]
rs1045529	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs11782281	0.82[CHB][hapmap]
rs11784393	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs11785819	0.83[CEU][hapmap]
rs12681075	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12682403	0.96[ASN][1000 genomes]
rs13252797	0.85[CEU][hapmap]
rs13271797	0.85[CEU][hapmap]
rs13272451	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1562211	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs17155071	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17701675	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1964356	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2044387	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs2044388	0.83[CHB][hapmap]
rs2082210	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2084076	0.93[JPT][hapmap]
rs2288669	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2288670	0.85[ASN][1000 genomes]
rs2288671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288672	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2288673	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2409117	0.80[ASN][1000 genomes]
rs2409118	0.80[ASN][1000 genomes]
rs2409119	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28397127	0.89[ASN][1000 genomes]
rs28490389	0.84[ASN][1000 genomes]
rs28693452	0.96[ASN][1000 genomes]
rs2915248	0.85[ASN][1000 genomes]
rs2915251	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915252	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2915253	0.97[ASN][1000 genomes]
rs2921383	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2953800	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2953801	0.97[ASN][1000 genomes]
rs2953802	0.84[AMR][1000 genomes]
rs2953808	0.93[JPT][hapmap]
rs2953809	0.88[ASN][1000 genomes]
rs2956242	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2956243	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2956244	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2979246	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2979247	0.93[CEU][hapmap]
rs2979256	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2979260	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979261	0.87[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2979262	0.87[ASN][1000 genomes]
rs2979263	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2979264	0.99[ASN][1000 genomes]
rs2979266	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35076339	0.84[ASN][1000 genomes]
rs4081881	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4433148	0.96[ASN][1000 genomes]
rs4472520	0.96[ASN][1000 genomes]
rs4551361	0.96[ASN][1000 genomes]
rs4601317	0.96[ASN][1000 genomes]
rs4636210	0.96[ASN][1000 genomes]
rs4840383	0.82[ASN][1000 genomes]
rs4841083	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841084	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841085	0.81[CHB][hapmap]
rs55654856	0.95[ASN][1000 genomes]
rs57552272	0.96[ASN][1000 genomes]
rs58254294	0.96[ASN][1000 genomes]
rs58604216	0.95[ASN][1000 genomes]
rs60664964	0.96[ASN][1000 genomes]
rs62492945	0.84[ASN][1000 genomes]
rs6422353	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6601280	0.82[CEU][hapmap]
rs6748	0.85[CEU][hapmap]
rs67831654	0.87[ASN][1000 genomes]
rs68132987	0.96[ASN][1000 genomes]
rs68159296	0.89[ASN][1000 genomes]
rs6983008	0.96[ASN][1000 genomes]
rs6983030	0.96[ASN][1000 genomes]
rs6983503	0.96[ASN][1000 genomes]
rs6983504	0.96[ASN][1000 genomes]
rs6987223	0.96[ASN][1000 genomes]
rs6987558	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6990532	0.96[ASN][1000 genomes]
rs6992896	0.96[ASN][1000 genomes]
rs6993244	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001457	0.85[ASN][1000 genomes]
rs7001518	0.95[ASN][1000 genomes]
rs7005133	0.90[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs7006089	0.85[ASN][1000 genomes]
rs7006526	0.96[ASN][1000 genomes]
rs7006798	0.94[ASN][1000 genomes]
rs7007290	0.82[ASN][1000 genomes]
rs7012954	0.96[ASN][1000 genomes]
rs7012984	0.96[ASN][1000 genomes]
rs7016139	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7017868	0.83[CEU][hapmap]
rs73195777	0.84[ASN][1000 genomes]
rs73195780	0.96[ASN][1000 genomes]
rs73518370	0.96[ASN][1000 genomes]
rs7357590	0.93[ASN][1000 genomes]
rs7357601	0.96[ASN][1000 genomes]
rs7813388	0.88[CHB][hapmap]
rs7839585	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7853	0.87[EUR][1000 genomes]
rs9329175	0.82[CEU][hapmap]
rs9650616	0.85[CEU][hapmap]
rs987537	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs987538	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2979265	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs2979265	SGK223	cis	Thyroid	GTEx
rs2979265	RP11-10A14.5	cis	Whole Blood	GTEx
rs2979265	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs2979265	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs2979265	RP11-62H7.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8853000-8858800	Weak transcription	K562	blood
3	chr8:8853200-8859600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:8853200-8859600	Weak transcription	A549	lung
5	chr8:8853200-8859600	Weak transcription	GM12878-XiMat	blood
6	chr8:8853200-8859600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:8854000-8859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:8856200-8859800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:8856200-8859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:8856400-8859600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:8856400-8859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:8856400-8859800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:8857000-8859800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:8857200-8859600	Weak transcription	Gastric	stomach
15	chr8:8858200-8858800	Weak transcription	NHEK	skin
16	chr8:8858200-8859800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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