Variant report

Variant	rs12641186
Chromosome Location	chr4:20696857-20696858
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	chr4:20693086..20698959-chr4:20699230..20704175,9	K562	blood:

Variant related genes	Relation type
ENSG00000163138	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10017693	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs10022322	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10024002	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10025286	0.89[ASN][1000 genomes]
rs10938801	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs11932551	0.81[ASN][1000 genomes]
rs11941041	0.88[ASN][1000 genomes]
rs12331966	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12640448	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12644782	0.90[JPT][hapmap]
rs16869851	1.00[ASN][1000 genomes]
rs16869889	0.89[ASN][1000 genomes]
rs17551335	0.89[ASN][1000 genomes]
rs17621796	0.82[ASN][1000 genomes]
rs17622163	0.89[ASN][1000 genomes]
rs17622371	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1985322	0.88[JPT][hapmap]
rs2052775	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2162413	0.82[CEU][hapmap]
rs2288308	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2322688	0.90[JPT][hapmap]
rs28374411	0.86[ASN][1000 genomes]
rs28524474	0.89[ASN][1000 genomes]
rs28714128	0.83[ASN][1000 genomes]
rs28788006	0.89[ASN][1000 genomes]
rs3764964	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs3764965	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs3764966	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs3764967	0.94[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796639	0.89[ASN][1000 genomes]
rs3815872	0.89[ASN][1000 genomes]
rs4510461	0.89[ASN][1000 genomes]
rs55794413	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55874299	1.00[ASN][1000 genomes]
rs56152829	1.00[ASN][1000 genomes]
rs56237079	0.82[ASN][1000 genomes]
rs57740160	0.83[ASN][1000 genomes]
rs59335491	0.89[ASN][1000 genomes]
rs61790748	0.85[ASN][1000 genomes]
rs62410065	0.89[ASN][1000 genomes]
rs62410092	0.91[ASN][1000 genomes]
rs62410099	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62410126	0.89[ASN][1000 genomes]
rs62410129	0.85[ASN][1000 genomes]
rs62410159	0.86[ASN][1000 genomes]
rs62411662	0.82[ASN][1000 genomes]
rs6447974	0.86[ASN][1000 genomes]
rs6447976	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6811030	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6811505	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs6831516	0.85[CHB][hapmap]
rs725594	0.89[ASN][1000 genomes]
rs73240292	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7438098	0.83[ASN][1000 genomes]
rs755155	0.91[ASN][1000 genomes]
rs7655154	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7666288	0.89[ASN][1000 genomes]
rs7674453	0.89[ASN][1000 genomes]
rs7681691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7696618	0.89[ASN][1000 genomes]
rs990206	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs9995697	1.00[CHB][hapmap];0.90[JPT][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	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20693400-20701200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20696200-20700000	Weak transcription	K562	blood

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