Variant report

Variant	rs2389694
Chromosome Location	chr4:119876232-119876233
allele	A/C
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:13)

rs_ID	r²[population]
rs10017229	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518317	0.90[EUR][1000 genomes]
rs13151719	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050228	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17050240	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17261234	0.91[EUR][1000 genomes]
rs17327171	0.87[EUR][1000 genomes]
rs34123613	1.00[ASN][1000 genomes]
rs4261974	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4299565	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4834729	0.87[ASN][1000 genomes]
rs67109496	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671630	0.99[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119868800-119886000	Weak transcription	Fetal Stomach	stomach
2	chr4:119870200-119878800	Weak transcription	Small Intestine	intestine
3	chr4:119872600-119878200	Weak transcription	Right Ventricle	heart
4	chr4:119873800-119877000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr4:119874000-119876800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:119874000-119877200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:119874200-119886000	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:119874400-119876400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:119874400-119876600	Enhancers	Left Ventricle	heart
10	chr4:119874400-119876600	Enhancers	Ovary	ovary
11	chr4:119874400-119876600	Enhancers	Psoas Muscle	Psoas
12	chr4:119874400-119877000	Enhancers	NHDF-Ad	bronchial
13	chr4:119875000-119876600	Enhancers	Brain Hippocampus Middle	brain
14	chr4:119875000-119877000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:119875200-119885800	Weak transcription	NHLF	lung
16	chr4:119875600-119876600	Weak transcription	Osteobl	bone
17	chr4:119875600-119876800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:119875600-119877200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:119875800-119876400	Enhancers	Aorta	Aorta
20	chr4:119875800-119876800	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:119875800-119877000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119875800-119877800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:119875800-119879000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119875800-119880800	Weak transcription	Brain Anterior Caudate	brain
25	chr4:119876200-119876600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:119876200-119876600	Enhancers	Right Atrium	heart

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