Variant report

Variant	rs72702054
Chromosome Location	chr4:186632867-186632868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13149134	1.00[ASN][1000 genomes]
rs34088679	1.00[ASN][1000 genomes]
rs34636498	1.00[ASN][1000 genomes]
rs35410654	1.00[ASN][1000 genomes]
rs35651701	1.00[ASN][1000 genomes]
rs35837246	1.00[ASN][1000 genomes]
rs4862563	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915443	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702045	0.89[EUR][1000 genomes]
rs72702052	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702053	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702055	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702089	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:186623600-186633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:186625600-186633000	Weak transcription	Ovary	ovary
5	chr4:186626400-186633000	Weak transcription	Gastric	stomach
6	chr4:186626400-186633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:186627000-186633000	Weak transcription	Fetal Stomach	stomach
8	chr4:186627200-186633000	Weak transcription	Pancreas	Pancrea
9	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:186627800-186633600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:186627800-186633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:186628200-186637600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:186629000-186635400	Enhancers	HUVEC	blood vessel
14	chr4:186629200-186633600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:186629200-186634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:186629400-186633400	Weak transcription	Small Intestine	intestine
17	chr4:186629600-186633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:186629600-186634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:186629800-186633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:186630000-186633200	Weak transcription	Left Ventricle	heart
21	chr4:186630000-186651600	Weak transcription	HSMM	muscle
22	chr4:186630600-186633400	Enhancers	HepG2	liver
23	chr4:186630600-186634600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:186630600-186635200	Enhancers	HMEC	breast
25	chr4:186630600-186635200	Enhancers	NH-A	brain
26	chr4:186631200-186638200	Weak transcription	HSMMtube	muscle
27	chr4:186631800-186635600	Enhancers	Right Ventricle	heart
28	chr4:186632000-186633000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:186632000-186633000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:186632000-186633800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:186632000-186637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:186632200-186633200	Weak transcription	Lung	lung
33	chr4:186632200-186633600	Enhancers	Osteobl	bone
34	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:186632400-186633600	Weak transcription	Aorta	Aorta
36	chr4:186632600-186633200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:186632600-186633400	Weak transcription	Right Atrium	heart
38	chr4:186632600-186635000	Enhancers	Stomach Mucosa	stomach
39	chr4:186632600-186635400	Enhancers	Hela-S3	cervix
40	chr4:186632600-186637200	Weak transcription	Fetal Brain Male	brain
41	chr4:186632800-186633200	Flanking Active TSS	Liver	Liver
42	chr4:186632800-186633800	Enhancers	Fetal Heart	heart
43	chr4:186632800-186636200	Enhancers	Fetal Intestine Large	intestine
44	chr4:186632800-186636600	Enhancers	Fetal Intestine Small	intestine
45	chr4:186632800-186637000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:186632800-186637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:186632800-186637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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