Variant report

Variant	rs11908625
Chromosome Location	chr20:23430230-23430231
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	chr20:23429806..23432217-chr20:23436004..23438997,2	K562	blood:
2	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:

Variant related genes	Relation type
ENSG00000200208	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1203994	0.82[ASN][1000 genomes]
rs2281433	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036387	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs6036393	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs6036396	0.85[EUR][1000 genomes]
rs6036400	0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6036402	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048724	0.85[JPT][hapmap]
rs6048726	0.85[JPT][hapmap]
rs6048727	0.82[JPT][hapmap]
rs6048747	0.85[JPT][hapmap]
rs6048748	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs6048764	1.00[JPT][hapmap]
rs6048773	0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048780	0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048782	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048783	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048785	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048787	0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048789	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048791	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048792	0.92[ASN][1000 genomes]
rs6048793	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048794	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6076052	0.82[JPT][hapmap]
rs6076060	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs6076069	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083082	0.93[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap]
rs6083091	0.85[JPT][hapmap]
rs6083109	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083117	0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083120	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083125	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs6106650	0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6106652	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6114078	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114086	1.00[CHD][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73303309	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7351246	0.92[TSI][hapmap]
rs7361799	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8119387	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv979404	chr20:23429655-23455778	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23427800-23431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:23429600-23431200	Enhancers	Fetal Thymus	thymus
7	chr20:23429800-23430400	Enhancers	GM12878-XiMat	blood
8	chr20:23429800-23430600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr20:23429800-23430600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:23429800-23430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:23429800-23430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:23430000-23430400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr20:23430000-23430400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr20:23430000-23430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:23430000-23430600	Enhancers	Dnd41	blood
16	chr20:23430000-23430800	Enhancers	Primary T cells from cord blood	blood
17	chr20:23430200-23430400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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