Variant report

Variant	rs59534418
Chromosome Location	chr4:120037651-120037652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120033922..120036234-chr4:120037431..120039972,2	K562	blood:
2	chr4:120035133..120037765-chr4:120132862..120135100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11559058	1.00[EUR][1000 genomes]
rs17050059	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28405657	0.83[EUR][1000 genomes]
rs9993189	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120028200-120038000	Weak transcription	Left Ventricle	heart
3	chr4:120028200-120038200	Weak transcription	Aorta	Aorta
4	chr4:120034400-120044800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120034800-120037800	Weak transcription	Adipose Nuclei	Adipose
6	chr4:120034800-120038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:120034800-120038200	Weak transcription	HSMMtube	muscle
8	chr4:120034800-120039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:120035000-120037800	Weak transcription	NHLF	lung
10	chr4:120035000-120039400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:120035000-120039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:120035200-120037800	Weak transcription	Osteobl	bone
13	chr4:120035200-120039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:120035400-120037800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120035400-120038200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:120035400-120038200	Weak transcription	HSMM	muscle
17	chr4:120035400-120039200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:120035400-120039200	Weak transcription	HMEC	breast
19	chr4:120035400-120039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:120035400-120039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:120035400-120039400	Weak transcription	NHEK	skin
22	chr4:120036400-120037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:120036400-120039800	Enhancers	NHDF-Ad	bronchial
24	chr4:120036600-120037800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:120036600-120038600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:120036600-120040600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:120037000-120038200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:120037000-120046600	Weak transcription	Right Ventricle	heart
29	chr4:120037200-120038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:120037400-120038000	Weak transcription	HepG2	liver
31	chr4:120037400-120038600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:120037400-120040400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:120037600-120038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:120037600-120038200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:120037600-120040800	Enhancers	HUVEC	blood vessel

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