Variant report

Variant	rs72915936
Chromosome Location	chr4:122709801-122709802
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	chr4:122616437..122619642-chr4:122706327..122710278,3	K562	blood:

Variant related genes	Relation type
ENSG00000164111	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11930245	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11930756	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs1507987	0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.83[AMR][1000 genomes]
rs3217770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34669312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769240	0.83[AMR][1000 genomes]

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	chr4:122706800-122710400	Weak transcription	HUVEC	blood vessel
2	chr4:122706800-122713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:122706800-122713200	Enhancers	NHDF-Ad	bronchial
4	chr4:122707000-122710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:122707000-122711400	Weak transcription	A549	lung
6	chr4:122707200-122710600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:122707400-122710400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:122707400-122710400	Weak transcription	Hela-S3	cervix
9	chr4:122707400-122710600	Weak transcription	HMEC	breast
10	chr4:122707600-122710200	Weak transcription	NHEK	skin
11	chr4:122707600-122711000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:122708000-122710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:122708000-122711200	Weak transcription	Fetal Heart	heart
14	chr4:122708800-122713000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:122708800-122713600	Enhancers	Osteobl	bone
16	chr4:122709000-122713600	Enhancers	HSMM	muscle
17	chr4:122709200-122711000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:122709200-122713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:122709400-122711800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:122709400-122713600	Enhancers	NH-A	brain
21	chr4:122709600-122710600	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:122709600-122713000	Enhancers	NHLF	lung
23	chr4:122709800-122710000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:122709800-122710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:122709800-122711200	Weak transcription	HSMMtube	muscle
26	chr4:122709800-122711200	Weak transcription	K562	blood

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