Variant report

Variant	rs56072232
Chromosome Location	chr4:120193715-120193716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120188064..120189929-chr4:120191758..120193828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11935130	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645079	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645965	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647635	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12649811	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650267	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049968	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17642800	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858285	0.85[ASN][1000 genomes]
rs28421394	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28848291	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28864107	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35372126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833614	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4834768	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4834769	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55732167	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56344202	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62328369	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62328371	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328372	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328373	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62328374	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62328376	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62328377	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328379	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328398	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328407	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62328426	0.82[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56072232	FABP2	cis	Whole Blood	GTEx
rs56072232	FABP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
12	chr4:120167000-120194400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:120173400-120195200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:120175600-120195200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr4:120176800-120194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:120176800-120200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:120176800-120202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:120177000-120194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:120177000-120195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:120177000-120205600	Weak transcription	Aorta	Aorta
23	chr4:120177000-120206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:120177000-120213600	Weak transcription	Lung	lung
25	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
27	chr4:120177200-120206200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:120177200-120213600	Weak transcription	Esophagus	oesophagus
29	chr4:120177800-120211400	Weak transcription	HepG2	liver
30	chr4:120178200-120213400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:120178200-120213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:120178200-120213800	Weak transcription	Primary B cells from cord blood	blood
33	chr4:120178600-120206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
35	chr4:120179400-120194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:120179600-120200800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:120180400-120194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:120180400-120200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:120181400-120194000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:120184000-120205200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:120184200-120194400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:120185800-120194800	Strong transcription	HSMM	muscle
43	chr4:120185800-120195200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:120186000-120195000	Strong transcription	Fetal Intestine Large	intestine
45	chr4:120186800-120194800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:120187000-120195200	Strong transcription	Liver	Liver
47	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
48	chr4:120187400-120194600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:120187600-120198800	Weak transcription	Fetal Heart	heart
50	chr4:120187800-120206000	Weak transcription	Rectal Smooth Muscle	rectum

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