Variant report

Variant	rs4246725
Chromosome Location	chr4:130264750-130264751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10002933	0.91[ASN][1000 genomes]
rs10018742	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11939768	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28459462	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130024	0.93[ASN][1000 genomes]
rs4246722	0.93[ASN][1000 genomes]
rs4246723	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4324562	0.85[ASN][1000 genomes]
rs4328927	0.93[ASN][1000 genomes]
rs4336241	0.95[ASN][1000 genomes]
rs4348109	0.86[ASN][1000 genomes]
rs4351033	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4356920	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364276	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4522874	0.93[ASN][1000 genomes]
rs4525996	0.84[ASN][1000 genomes]
rs4604071	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4608824	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975210	0.93[ASN][1000 genomes]
rs4975211	0.93[ASN][1000 genomes]
rs4975212	0.83[ASN][1000 genomes]
rs4975213	0.93[ASN][1000 genomes]
rs4975217	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5019103	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5019104	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62317265	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534723	0.93[ASN][1000 genomes]
rs6534724	0.93[ASN][1000 genomes]
rs6534725	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6534727	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6814634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818545	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819060	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6820523	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6820852	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821513	0.86[ASN][1000 genomes]
rs6842148	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7656960	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9994470	0.86[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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130258400-130267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:130258800-130265400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:130263200-130265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:130263400-130264800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:130263400-130265200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr4:130263600-130264800	Enhancers	Fetal Intestine Small	intestine
7	chr4:130263600-130265600	Enhancers	Fetal Intestine Large	intestine
8	chr4:130263600-130265600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:130264000-130268000	Weak transcription	Fetal Kidney	kidney
10	chr4:130264200-130264800	Enhancers	Adipose Nuclei	Adipose
11	chr4:130264200-130264800	Enhancers	Hela-S3	cervix
12	chr4:130264200-130264800	Enhancers	NHDF-Ad	bronchial
13	chr4:130264200-130265000	Enhancers	Osteobl	bone
14	chr4:130264200-130265200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:130264200-130265200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:130264200-130265200	Enhancers	Liver	Liver
17	chr4:130264200-130265400	Enhancers	HMEC	breast
18	chr4:130264200-130265600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:130264200-130265800	Enhancers	NHLF	lung
20	chr4:130264200-130268000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:130264400-130264800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:130264400-130265000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:130264400-130267000	Enhancers	Fetal Lung	lung
24	chr4:130264600-130264800	Enhancers	Primary B cells from cord blood	blood
25	chr4:130264600-130264800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:130264600-130264800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:130264600-130265200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:130264600-130266000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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