Variant report

Variant	rs12790582
Chromosome Location	chr11:16393539-16393540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16383712..16391203-chr11:16391970..16396695,10	K562	blood:
2	chr11:16391881..16394092-chr11:16627709..16630922,3	K562	blood:
3	chr11:16391881..16394012-chr11:16627949..16630922,2	K562	blood:
4	chr11:16389058..16392285-chr11:16392287..16396695,4	K562	blood:
5	chr11:16392636..16394848-chr11:16401508..16404026,2	K562	blood:
6	chr11:16393284..16394848-chr11:16402526..16404258,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1000565	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1039508	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11603071	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11604277	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12292172	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12786367	0.82[JPT][hapmap]
rs12805370	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1370465	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503441	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1503452	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs17470652	0.82[AFR][1000 genomes]
rs17554835	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1847315	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34469046	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34737838	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35503644	0.85[EUR][1000 genomes]
rs66705712	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66906527	0.85[EUR][1000 genomes]
rs67280587	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7930085	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7932807	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs7945007	0.82[YRI][hapmap]
rs7945099	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs7946119	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7950287	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16388200-16397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16388200-16414200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:16389200-16397800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:16393400-16394000	Weak transcription	K562	blood

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