Variant report

Variant	rs72676016
Chromosome Location	chr4:120215828-120215829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120210640..120212674-chr4:120212958..120216371,3	MCF-7	breast:
2	chr4:119905616..119908043-chr4:120213868..120216541,2	MCF-7	breast:
3	chr4:120213325..120216511-chr4:120219739..120222750,3	K562	blood:

Variant related genes	Relation type
ENSG00000164096	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002207	0.87[EUR][1000 genomes]
rs10008206	0.87[EUR][1000 genomes]
rs10017227	0.87[EUR][1000 genomes]
rs10020251	0.87[EUR][1000 genomes]
rs10027543	0.87[EUR][1000 genomes]
rs10027649	0.87[EUR][1000 genomes]
rs17050012	0.87[EUR][1000 genomes]
rs28477374	0.87[EUR][1000 genomes]
rs28734069	0.87[EUR][1000 genomes]
rs72673713	0.87[EUR][1000 genomes]
rs72673777	0.87[EUR][1000 genomes]
rs72673794	0.87[EUR][1000 genomes]
rs72676009	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
4	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
5	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
6	chr4:120193000-120217600	Weak transcription	Psoas Muscle	Psoas
7	chr4:120193000-120219200	Weak transcription	Fetal Brain Male	brain
8	chr4:120201200-120220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:120201200-120220200	Weak transcription	Gastric	stomach
10	chr4:120201400-120220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:120202000-120220200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:120206400-120217400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:120206400-120217600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:120206400-120217600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:120206400-120218200	Weak transcription	Aorta	Aorta
16	chr4:120206400-120219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:120206400-120219600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:120206400-120219800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:120206400-120219800	Weak transcription	Brain Substantia Nigra	brain
20	chr4:120206400-120220000	Weak transcription	Colonic Mucosa	Colon
21	chr4:120206600-120216600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:120206600-120216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:120206600-120217600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:120206600-120217600	Weak transcription	Small Intestine	intestine
25	chr4:120206600-120219200	Weak transcription	Hela-S3	cervix
26	chr4:120206600-120219600	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:120206600-120219800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:120206600-120220200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:120206800-120217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:120206800-120217600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:120206800-120219200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:120206800-120219200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:120206800-120220200	Weak transcription	Stomach Mucosa	stomach
34	chr4:120207000-120217400	Weak transcription	GM12878-XiMat	blood
35	chr4:120207200-120217600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:120207200-120218200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:120207600-120217800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:120207600-120219400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:120207600-120219800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:120207800-120217800	Weak transcription	A549	lung
41	chr4:120208200-120218200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:120208400-120217400	Weak transcription	Fetal Lung	lung
43	chr4:120208400-120219200	Weak transcription	Fetal Heart	heart
44	chr4:120209000-120216600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:120211400-120217600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:120211400-120219200	Strong transcription	NHDF-Ad	bronchial
47	chr4:120211600-120217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:120211600-120219200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:120212200-120218000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:120212400-120217200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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