Variant report

Variant	rs6447871
Chromosome Location	chr4:7942256-7942257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1320069	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1814873	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1814874	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2385911	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2385913	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2386056	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235268	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4235269	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4345163	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4385040	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4696825	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696827	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696834	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5012708	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5012709	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6816560	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6819776	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7655226	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7667982	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7681378	0.82[ASN][1000 genomes]
rs7683285	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7685634	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3370778	chr4:7940277-7942825	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:7941600-7942800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:7941600-7943200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:7941600-7944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
7	chr4:7941800-7943600	Enhancers	Fetal Heart	heart
8	chr4:7942000-7942400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:7942000-7942600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:7942000-7942600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:7942000-7942600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:7942000-7942600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:7942000-7942600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:7942000-7942600	Weak transcription	Spleen	Spleen
15	chr4:7942000-7942800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:7942000-7942800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:7942000-7942800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:7942000-7942800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:7942000-7942800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:7942000-7942800	Weak transcription	Gastric	stomach
21	chr4:7942000-7942800	Weak transcription	Lung	lung
22	chr4:7942000-7942800	Weak transcription	Ovary	ovary
23	chr4:7942000-7942800	Enhancers	Hela-S3	cervix
24	chr4:7942000-7943000	Weak transcription	NHLF	lung
25	chr4:7942000-7943200	Enhancers	Esophagus	oesophagus
26	chr4:7942000-7943200	Enhancers	Fetal Muscle Trunk	muscle
27	chr4:7942000-7943200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:7942000-7943200	Enhancers	HSMMtube	muscle
29	chr4:7942000-7943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:7942000-7943400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:7942000-7943400	Enhancers	HMEC	breast
34	chr4:7942000-7943600	Enhancers	Osteobl	bone
35	chr4:7942000-7943800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:7942000-7943800	Enhancers	Adipose Nuclei	Adipose
37	chr4:7942000-7943800	Enhancers	Pancreas	Pancrea
38	chr4:7942000-7943800	Enhancers	Stomach Mucosa	stomach
39	chr4:7942000-7943800	Enhancers	HepG2	liver
40	chr4:7942000-7943800	Enhancers	HSMM	muscle
41	chr4:7942000-7944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:7942000-7944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:7942000-7944200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:7942000-7944200	Enhancers	Fetal Intestine Large	intestine
45	chr4:7942000-7944200	Enhancers	NHDF-Ad	bronchial
46	chr4:7942000-7944400	Enhancers	Fetal Intestine Small	intestine
47	chr4:7942000-7944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:7942000-7945200	Enhancers	A549	lung
49	chr4:7942000-7945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:7942000-7945400	Enhancers	Placenta	Placenta

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