Variant report

Variant	rs12643379
Chromosome Location	chr4:86743708-86743709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1452676	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400759	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1840058	0.92[EUR][1000 genomes];1.00[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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86729000-86744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:86729800-86744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:86736200-86748600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:86737600-86744600	Weak transcription	K562	blood
7	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
8	chr4:86740200-86744600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:86740200-86744600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:86740200-86744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:86740200-86745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:86740200-86747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:86740200-86747200	Weak transcription	Fetal Lung	lung
14	chr4:86740200-86748600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:86740200-86748800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:86740800-86743800	Weak transcription	Fetal Brain Male	brain
17	chr4:86741600-86744200	Weak transcription	HSMM	muscle
18	chr4:86741600-86744600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:86741600-86745800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:86741800-86744200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:86741800-86747200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:86742400-86744400	Enhancers	HUVEC	blood vessel
23	chr4:86742400-86744600	Enhancers	NHDF-Ad	bronchial
24	chr4:86743000-86744000	Enhancers	Fetal Kidney	kidney
25	chr4:86743000-86746000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:86743200-86745800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:86743200-86748800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:86743400-86743800	Enhancers	Aorta	Aorta
29	chr4:86743400-86743800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:86743400-86744000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:86743400-86745800	Enhancers	Osteobl	bone
32	chr4:86743600-86743800	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:86743600-86743800	Enhancers	HSMMtube	muscle
34	chr4:86743600-86744600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:86743600-86744600	Weak transcription	NHLF	lung
36	chr4:86743600-86744800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:86743600-86747200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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