Variant report

Variant	rs72702045
Chromosome Location	chr4:186630394-186630395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4862563	0.94[EUR][1000 genomes]
rs55915443	0.92[EUR][1000 genomes]
rs72702052	0.94[EUR][1000 genomes]
rs72702053	0.94[EUR][1000 genomes]
rs72702054	0.89[EUR][1000 genomes]
rs72702055	0.94[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
2	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:186623600-186633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:186625600-186633000	Weak transcription	Ovary	ovary
6	chr4:186626200-186631800	Weak transcription	Esophagus	oesophagus
7	chr4:186626400-186632200	Weak transcription	Aorta	Aorta
8	chr4:186626400-186633000	Weak transcription	Gastric	stomach
9	chr4:186626400-186633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:186627000-186633000	Weak transcription	Fetal Stomach	stomach
11	chr4:186627200-186633000	Weak transcription	Pancreas	Pancrea
12	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:186627800-186630600	Weak transcription	HepG2	liver
14	chr4:186627800-186630800	Weak transcription	Liver	Liver
15	chr4:186627800-186633600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:186627800-186633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:186628200-186637600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:186628400-186630800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:186628400-186630800	Enhancers	Stomach Mucosa	stomach
20	chr4:186628400-186631600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:186628600-186632200	Enhancers	NHDF-Ad	bronchial
22	chr4:186628600-186632800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:186629000-186635400	Enhancers	HUVEC	blood vessel
24	chr4:186629200-186633600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:186629200-186634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:186629400-186630800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:186629400-186632800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:186629400-186633400	Weak transcription	Small Intestine	intestine
29	chr4:186629600-186632600	Enhancers	Fetal Heart	heart
30	chr4:186629600-186632800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:186629600-186633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:186629600-186634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:186629800-186633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:186630000-186630800	Weak transcription	HSMMtube	muscle
35	chr4:186630000-186631600	Enhancers	Osteobl	bone
36	chr4:186630000-186631800	Weak transcription	Right Ventricle	heart
37	chr4:186630000-186633200	Weak transcription	Left Ventricle	heart
38	chr4:186630000-186651600	Weak transcription	HSMM	muscle
39	chr4:186630200-186630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:186630200-186630600	Weak transcription	Hela-S3	cervix
41	chr4:186630200-186630600	Weak transcription	HMEC	breast
42	chr4:186630200-186630600	Weak transcription	NH-A	brain

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