Variant report

Variant	rs12642839
Chromosome Location	chr4:119894797-119894798
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	chr4:119890629..119893657-chr4:119893845..119896663,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12644954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711068	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13102598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903109	0.82[ASN][1000 genomes]
rs28397961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089242	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9307465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3432125	chr4:119894758-119895246	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119886600-119896800	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:119889800-119896200	Weak transcription	Fetal Thymus	thymus
3	chr4:119890000-119895400	Weak transcription	Left Ventricle	heart
4	chr4:119890400-119894800	Weak transcription	NHLF	lung
5	chr4:119890400-119895800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:119890400-119895800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:119890400-119896000	Weak transcription	Right Ventricle	heart
8	chr4:119890400-119896000	Weak transcription	NH-A	brain
9	chr4:119890400-119896400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:119890600-119895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:119890600-119895600	Weak transcription	HMEC	breast
12	chr4:119890600-119896000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:119890600-119898200	Weak transcription	Fetal Stomach	stomach
14	chr4:119890800-119895400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:119890800-119895400	Weak transcription	Small Intestine	intestine
16	chr4:119890800-119895600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:119890800-119896200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:119890800-119896200	Weak transcription	HSMMtube	muscle
19	chr4:119891200-119895800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:119892400-119897000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:119892600-119896800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:119892800-119897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:119893400-119894800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:119893600-119895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:119893600-119896200	Weak transcription	Psoas Muscle	Psoas
26	chr4:119893600-119901400	Weak transcription	Ovary	ovary
27	chr4:119893600-119902600	Weak transcription	Right Atrium	heart
28	chr4:119893800-119897000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:119893800-119897000	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:119894000-119896000	Weak transcription	Fetal Heart	heart
31	chr4:119894200-119897200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:119894200-119897200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:119894400-119895800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:119894600-119894800	Flanking Active TSS	Aorta	Aorta
35	chr4:119894600-119895000	Flanking Active TSS	Osteobl	bone
36	chr4:119894600-119896000	Weak transcription	Esophagus	oesophagus
37	chr4:119894600-119897000	Enhancers	NHDF-Ad	bronchial

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