Variant report

Variant	rs317942
Chromosome Location	chr8:85342577-85342578
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	chr8:85229678..85232410-chr8:85340813..85342661,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10102848	0.81[JPT][hapmap]
rs10112823	0.80[CEU][hapmap]
rs12548307	0.82[JPT][hapmap]
rs13253716	0.83[AMR][1000 genomes]
rs13261650	0.80[CEU][hapmap]
rs13268314	0.86[JPT][hapmap]
rs1388415	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs1388416	0.82[JPT][hapmap]
rs1491565	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1491566	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs1586798	0.81[JPT][hapmap]
rs1907549	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs2127220	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs317952	0.88[CEU][hapmap]
rs317954	0.88[CEU][hapmap]
rs4349980	0.86[JPT][hapmap]
rs4504634	0.81[JPT][hapmap]
rs4639510	0.86[JPT][hapmap]
rs4740009	0.86[JPT][hapmap]
rs60226	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7000150	0.83[CEU][hapmap]
rs7010963	0.86[JPT][hapmap]
rs711009	0.81[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs711012	0.80[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs711014	0.80[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs711017	0.81[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs711021	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs711026	0.81[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs711028	0.80[EUR][1000 genomes]
rs711030	0.81[JPT][hapmap]
rs711038	0.82[JPT][hapmap]
rs711051	0.81[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7825684	0.86[JPT][hapmap]
rs7825715	0.80[CEU][hapmap]
rs7829286	0.80[CEU][hapmap]
rs783787	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs7841089	0.80[CEU][hapmap]
rs977859	0.80[CEU][hapmap]

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	nsv831375	chr8:85272352-85463621	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1029152	chr8:85292559-85352660	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv2761174	chr8:85292571-85342761	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1031918	chr8:85293666-85342749	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85340000-85343600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:85340600-85343600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:85341800-85343000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:85342000-85343200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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