Variant report

Variant	rs1994629
Chromosome Location	chr4:119884747-119884748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10022588	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10022665	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1021377	0.90[JPT][hapmap]
rs1038771	0.93[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098467	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12502164	0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12647308	0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1994628	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4488925	0.89[EUR][1000 genomes]
rs56225827	0.83[EUR][1000 genomes]
rs6819572	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6858546	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv992928	chr4:119880696-119889458	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119868800-119886000	Weak transcription	Fetal Stomach	stomach
2	chr4:119874200-119886000	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:119875200-119885800	Weak transcription	NHLF	lung
4	chr4:119876400-119886000	Weak transcription	Aorta	Aorta
5	chr4:119878600-119885400	Weak transcription	Right Ventricle	heart
6	chr4:119879200-119889000	Weak transcription	Fetal Heart	heart
7	chr4:119879800-119886000	Weak transcription	Psoas Muscle	Psoas
8	chr4:119879800-119893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:119882600-119885200	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:119883400-119886200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:119883600-119885000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:119884000-119886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:119884000-119886200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:119884000-119886200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:119884000-119886600	Enhancers	Left Ventricle	heart
16	chr4:119884200-119885000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:119884200-119886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:119884200-119886000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:119884200-119886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:119884200-119886000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:119884200-119886000	Weak transcription	Ovary	ovary
22	chr4:119884200-119888400	Weak transcription	Right Atrium	heart
23	chr4:119884400-119886000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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