Variant report

Variant	rs12508866
Chromosome Location	chr4:142565693-142565694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10519613	0.92[MKK][hapmap]
rs13106911	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs13117878	0.89[CHD][hapmap];0.84[JPT][hapmap]
rs1519551	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2090664	0.84[JPT][hapmap]
rs34771286	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258421	0.93[EUR][1000 genomes]
rs58934440	0.90[AFR][1000 genomes]
rs932209	1.00[JPT][hapmap]
rs957077	1.00[ASW][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830094	chr4:142411738-142567788	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142558600-142569000	Weak transcription	Small Intestine	intestine
2	chr4:142559800-142574000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:142560000-142575200	Weak transcription	Right Atrium	heart
4	chr4:142561400-142567600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:142562200-142568600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:142563400-142565800	Enhancers	HSMM	muscle
7	chr4:142563400-142566000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:142563400-142568600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:142563400-142569200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:142563400-142569200	Enhancers	Osteobl	bone
11	chr4:142563400-142569400	Enhancers	HMEC	breast
12	chr4:142563400-142569600	Enhancers	NHDF-Ad	bronchial
13	chr4:142563600-142565800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:142563600-142565800	Enhancers	NH-A	brain
15	chr4:142563800-142566600	Weak transcription	Aorta	Aorta
16	chr4:142563800-142568600	Weak transcription	Adipose Nuclei	Adipose
17	chr4:142564000-142568800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:142564000-142568800	Weak transcription	Spleen	Spleen
19	chr4:142564000-142569200	Weak transcription	Esophagus	oesophagus
20	chr4:142564000-142575200	Weak transcription	Psoas Muscle	Psoas
21	chr4:142564200-142569000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:142564600-142570200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:142565000-142568800	Enhancers	A549	lung
24	chr4:142565200-142566400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:142565200-142566600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:142565200-142566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:142565200-142566600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:142565200-142567000	Weak transcription	HSMMtube	muscle
29	chr4:142565400-142566400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:142565400-142566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:142565400-142566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:142565400-142566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:142565400-142566400	Weak transcription	Hela-S3	cervix
34	chr4:142565400-142566400	Weak transcription	NHLF	lung
35	chr4:142565400-142568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:142565400-142580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:142565600-142566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:142565600-142566600	Weak transcription	GM12878-XiMat	blood
39	chr4:142565600-142566600	Weak transcription	NHEK	skin

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