Variant report

Variant	rs12500593
Chromosome Location	chr4:119898557-119898558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10028758	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1846	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4488925	0.81[ASN][1000 genomes]
rs4834733	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56225827	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119893600-119901400	Weak transcription	Ovary	ovary
2	chr4:119893600-119902600	Weak transcription	Right Atrium	heart
3	chr4:119896400-119907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119896600-119901400	Weak transcription	Psoas Muscle	Psoas
5	chr4:119896600-119902000	Weak transcription	NH-A	brain
6	chr4:119896800-119900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:119896800-119900000	Weak transcription	HMEC	breast
8	chr4:119896800-119901400	Weak transcription	Left Ventricle	heart
9	chr4:119896800-119901400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:119896800-119902200	Weak transcription	NHLF	lung
11	chr4:119896800-119903600	Weak transcription	Right Ventricle	heart
12	chr4:119897000-119898800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:119897000-119900200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:119897000-119901400	Weak transcription	Aorta	Aorta
15	chr4:119897000-119901600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:119897000-119901800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:119897000-119902000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:119897000-119902000	Weak transcription	Fetal Heart	heart
19	chr4:119897000-119902000	Weak transcription	HSMMtube	muscle
20	chr4:119897000-119902000	Weak transcription	NHDF-Ad	bronchial
21	chr4:119897000-119902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:119897000-119902200	Weak transcription	HSMM	muscle
23	chr4:119897200-119898600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:119897200-119898800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:119897200-119901600	Weak transcription	Osteobl	bone
26	chr4:119897400-119898800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:119898400-119902400	Weak transcription	Fetal Stomach	stomach

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