Variant report

Variant	rs12650359
Chromosome Location	chr4:122714623-122714624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:
2	chr4:122707344..122709734-chr4:122714569..122716206,2	MCF-7	breast:
3	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11098645	0.89[CHB][hapmap]
rs11098646	0.89[CHB][hapmap]
rs11731917	0.92[CHB][hapmap]
rs12502635	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507995	0.83[CHB][hapmap]
rs1507996	0.94[ASN][1000 genomes]
rs17694439	1.00[CEU][hapmap]
rs2063165	0.87[CHB][hapmap]
rs2221628	0.83[CHB][hapmap]
rs2892973	1.00[JPT][hapmap]
rs3217753	0.88[CHB][hapmap]
rs3217771	0.89[CHB][hapmap]
rs3217773	0.88[CHB][hapmap]
rs3828485	0.83[CHB][hapmap]
rs4484320	1.00[EUR][1000 genomes]
rs6813653	0.96[ASN][1000 genomes]
rs6824258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6838153	0.88[CHB][hapmap]
rs7686084	0.89[CHB][hapmap]
rs7686200	0.88[CHB][hapmap]
rs769238	0.86[CHB][hapmap]
rs7699776	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711000-122715800	Weak transcription	GM12878-XiMat	blood
2	chr4:122711800-122715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:122711800-122715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
5	chr4:122711800-122721800	Weak transcription	HMEC	breast
6	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:122712200-122721600	Weak transcription	A549	lung
8	chr4:122712400-122717000	Weak transcription	HUVEC	blood vessel
9	chr4:122712800-122715200	Weak transcription	Fetal Heart	heart
10	chr4:122712800-122716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:122713000-122715400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:122713000-122715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:122713000-122717000	Weak transcription	NHLF	lung
14	chr4:122713200-122715600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:122713200-122715600	Weak transcription	Thymus	Thymus
16	chr4:122713200-122716800	Weak transcription	NHDF-Ad	bronchial
17	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
18	chr4:122713400-122715600	Weak transcription	Fetal Thymus	thymus
19	chr4:122713400-122715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:122713600-122715400	Weak transcription	Osteobl	bone
21	chr4:122713600-122715600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:122713600-122715600	Weak transcription	HSMM	muscle
23	chr4:122714200-122715600	Enhancers	K562	blood
24	chr4:122714600-122716800	Weak transcription	NHEK	skin
25	chr4:122714600-122717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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