Variant report

Variant	rs572811304
Chromosome Location	chr4:120206181-120206182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120134118..120136397-chr4:120205863..120208720,4	K562	blood:
2	chr4:120134118..120136397-chr4:120205863..120208720,2	K562	blood:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
5	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:120177000-120213600	Weak transcription	Lung	lung
8	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
10	chr4:120177200-120206200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:120177200-120213600	Weak transcription	Esophagus	oesophagus
12	chr4:120177800-120211400	Weak transcription	HepG2	liver
13	chr4:120178200-120213400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:120178200-120213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:120178200-120213800	Weak transcription	Primary B cells from cord blood	blood
16	chr4:120178600-120206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
18	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
19	chr4:120189800-120206200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:120193000-120206200	Weak transcription	Colonic Mucosa	Colon
21	chr4:120193000-120217600	Weak transcription	Psoas Muscle	Psoas
22	chr4:120193000-120219200	Weak transcription	Fetal Brain Male	brain
23	chr4:120193200-120212600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:120193800-120213600	Weak transcription	Left Ventricle	heart
25	chr4:120194600-120213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:120195000-120211800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:120195200-120208200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:120201200-120212400	Weak transcription	Placenta	Placenta
29	chr4:120201200-120220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:120201200-120220200	Weak transcription	Gastric	stomach
31	chr4:120201400-120220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:120201800-120208800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:120201800-120213600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:120201800-120213800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:120202000-120213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:120202000-120213600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:120202000-120220200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:120202400-120207000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:120202400-120211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:120203000-120213600	Weak transcription	Primary T cells from cord blood	blood
41	chr4:120203600-120206400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:120205200-120206600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:120205400-120207000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:120205400-120207200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:120205600-120206200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:120205800-120206200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:120205800-120206200	Weak transcription	Fetal Intestine Small	intestine
48	chr4:120205800-120206200	Active TSS	NHDF-Ad	bronchial
49	chr4:120205800-120206800	Flanking Active TSS	HUVEC	blood vessel
50	chr4:120205800-120207000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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