Variant report

Variant	rs987537
Chromosome Location	chr8:8856194-8856195
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr8:8856052-8856285	GM12878	blood:	n/a	n/a
2	MXI1	chr8:8856163-8856363	GM12878	blood:	n/a	n/a
3	BHLHE40	chr8:8856121-8856342	GM12878	blood:	n/a	n/a
4	EBF1	chr8:8855942-8856282	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8846981..8849867-chr8:8855018..8857394,2	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1036081	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11782281	0.94[CHB][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs12677456	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681075	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs12682403	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13257208	0.85[EUR][1000 genomes]
rs17155071	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs2044388	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2082210	0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs2084076	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288670	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288671	0.89[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2288672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28693452	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915248	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2915251	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2915252	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915253	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2921374	0.83[EUR][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2953801	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2953808	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953809	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2956244	0.90[JPT][hapmap]
rs2979246	0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2979249	0.82[EUR][1000 genomes]
rs2979250	0.85[EUR][1000 genomes]
rs2979256	0.93[JPT][hapmap]
rs2979260	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2979261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2979262	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979264	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979265	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2979266	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35076339	0.93[EUR][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4433148	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4472520	0.86[ASN][1000 genomes]
rs4551361	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4601317	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4636210	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841080	0.81[AFR][1000 genomes]
rs4841083	0.93[JPT][hapmap]
rs4841085	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55654856	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57552272	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58254294	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58604216	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60664964	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67831654	0.93[EUR][1000 genomes]
rs68132987	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68159296	0.90[EUR][1000 genomes]
rs6983008	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983030	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983503	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983504	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987223	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987558	0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs6990532	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6992896	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993244	0.82[ASN][1000 genomes]
rs7001457	0.87[EUR][1000 genomes]
rs7001518	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7006526	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006798	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7007290	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012685	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012954	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012984	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73195758	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73195769	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73195777	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73195780	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73518370	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7357590	0.84[ASN][1000 genomes]
rs7357601	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7813388	0.89[CHB][hapmap]
rs7824140	0.82[EUR][1000 genomes]
rs7839585	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs9644673	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9644696	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987538	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8853000-8857000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:8853000-8858800	Weak transcription	K562	blood
4	chr8:8853200-8856200	Weak transcription	HepG2	liver
5	chr8:8853200-8859600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:8853200-8859600	Weak transcription	A549	lung
7	chr8:8853200-8859600	Weak transcription	GM12878-XiMat	blood
8	chr8:8853200-8859600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:8854000-8859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:8855800-8856200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:8856000-8856200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:8856000-8856200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:8856000-8856200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:8856000-8856200	Enhancers	NHEK	skin
15	chr8:8856000-8856400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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