Variant report

Variant	rs7831285
Chromosome Location	chr8:9892568-9892569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9891135..9893844-chr8:9895731..9897309,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10903321	1.00[CHB][hapmap]
rs11774220	1.00[CHB][hapmap]
rs11776035	1.00[CHB][hapmap]
rs11780122	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11783705	1.00[CHB][hapmap]
rs11786541	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12678938	1.00[ASN][1000 genomes]
rs13250399	1.00[ASN][1000 genomes]
rs13252276	1.00[ASN][1000 genomes]
rs13252589	1.00[CHB][hapmap]
rs13272731	1.00[ASN][1000 genomes]
rs13272793	1.00[CHB][hapmap]
rs13276420	1.00[ASN][1000 genomes]
rs13279701	1.00[CHB][hapmap]
rs13282752	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1484641	1.00[CHB][hapmap]
rs1521198	1.00[ASN][1000 genomes]
rs17150816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17690549	1.00[CHB][hapmap]
rs17746227	1.00[CHB][hapmap]
rs17746245	1.00[CHB][hapmap]
rs17747335	1.00[CHB][hapmap]
rs1976071	1.00[ASN][1000 genomes]
rs34376851	1.00[ASN][1000 genomes]
rs35013996	1.00[ASN][1000 genomes]
rs35114037	1.00[ASN][1000 genomes]
rs35437983	1.00[ASN][1000 genomes]
rs4526366	1.00[ASN][1000 genomes]
rs483916	1.00[CHB][hapmap]
rs4840467	1.00[CHB][hapmap]
rs56279061	1.00[ASN][1000 genomes]
rs56408109	1.00[ASN][1000 genomes]
rs60121567	1.00[ASN][1000 genomes]
rs6601404	1.00[ASN][1000 genomes]
rs66536005	1.00[ASN][1000 genomes]
rs6985941	1.00[CHB][hapmap]
rs73189109	1.00[ASN][1000 genomes]
rs73189192	1.00[ASN][1000 genomes]
rs73189202	1.00[ASN][1000 genomes]
rs7840347	1.00[CHB][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1034165	chr8:9821150-9906812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539465	chr8:9821150-9906812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv890342	chr8:9864345-9897508	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7831285	BLK	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9889200-9905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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