Variant report

Variant	rs4975216
Chromosome Location	chr4:130264517-130264518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10031400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512124	0.92[EUR][1000 genomes]
rs17014621	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57182662	0.87[ASN][1000 genomes]
rs59326597	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59634627	0.87[ASN][1000 genomes]
rs67778905	0.87[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	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
3	nsv879932	chr4:130167642-130264517	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	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	chr4:130264000-130264600	Weak transcription	Primary B cells from cord blood	blood
10	chr4:130264000-130264600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr4:130264000-130268000	Weak transcription	Fetal Kidney	kidney
12	chr4:130264200-130264600	Active TSS	Duodenum Mucosa	Duodenum
13	chr4:130264200-130264800	Enhancers	Adipose Nuclei	Adipose
14	chr4:130264200-130264800	Enhancers	Hela-S3	cervix
15	chr4:130264200-130264800	Enhancers	NHDF-Ad	bronchial
16	chr4:130264200-130265000	Enhancers	Osteobl	bone
17	chr4:130264200-130265200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:130264200-130265200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:130264200-130265200	Enhancers	Liver	Liver
20	chr4:130264200-130265400	Enhancers	HMEC	breast
21	chr4:130264200-130265600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:130264200-130265800	Enhancers	NHLF	lung
23	chr4:130264200-130268000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:130264400-130264600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:130264400-130264600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:130264400-130264800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:130264400-130265000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:130264400-130267000	Enhancers	Fetal Lung	lung

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