Variant report

Variant	rs685353
Chromosome Location	chr8:9893553-9893554
allele	C/T
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: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10088663	0.90[ASN][1000 genomes]
rs10088890	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10090114	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10098342	0.90[JPT][hapmap]
rs10100022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10216752	0.90[JPT][hapmap]
rs1023961	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11775290	0.94[YRI][hapmap]
rs11984513	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11990555	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13249486	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs13282106	0.89[JPT][hapmap]
rs1484639	0.89[JPT][hapmap]
rs1484640	0.88[JPT][hapmap]
rs1484642	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1484644	0.85[ASN][1000 genomes]
rs1521190	0.95[ASN][1000 genomes]
rs1531918	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1531919	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs17151071	0.90[JPT][hapmap]
rs17151244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17689563	0.85[ASN][1000 genomes]
rs17689674	0.89[JPT][hapmap]
rs17738724	1.00[CHB][hapmap]
rs17739113	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs17739179	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2046399	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2046400	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2062333	0.88[JPT][hapmap]
rs2220149	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2220150	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2628140	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2661755	0.95[ASN][1000 genomes]
rs4841281	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs4841284	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4841285	0.90[ASN][1000 genomes]
rs534667	0.81[ASN][1000 genomes]
rs569446	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57726127	0.85[ASN][1000 genomes]
rs57980126	0.85[ASN][1000 genomes]
rs58133870	0.85[ASN][1000 genomes]
rs58437548	0.85[ASN][1000 genomes]
rs59759359	0.90[ASN][1000 genomes]
rs60465334	0.90[ASN][1000 genomes]
rs647796	0.81[AFR][1000 genomes]
rs658385	0.90[ASN][1000 genomes]
rs7005350	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs728878	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7812741	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7823314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7823714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7832670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7833387	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7833895	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7843443	0.85[JPT][hapmap]
rs814405	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs923046	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs9329213	0.90[JPT][hapmap]
rs9329216	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs963592	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]

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

No data

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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