Variant report

Variant	rs62328379
Chromosome Location	chr4:120178193-120178194
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	chr4:120176059..120178836-chr4:120180893..120184210,4	K562	blood:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11935130	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12645079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12645965	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647635	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12649811	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12650267	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17049968	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17642800	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858285	0.85[ASN][1000 genomes]
rs28421394	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28848291	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28864107	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35372126	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834768	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4834769	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55732167	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56072232	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56344202	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328369	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328371	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328372	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328373	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62328374	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62328377	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328398	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328407	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62328426	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2763386	chr4:120143861-120186968	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv461632	chr4:120158734-120180790	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv461633	chr4:120158734-120180790	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv595332	chr4:120158734-120180790	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62328379	FABP2	cis	Whole Blood	GTEx
rs62328379	FABP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:112 , 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	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
5	chr4:120146000-120178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:120155600-120186000	Weak transcription	Fetal Heart	heart
8	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:120159800-120188400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:120165800-120179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:120165800-120187000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:120166000-120183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:120166400-120180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:120166400-120187200	Weak transcription	Fetal Kidney	kidney
20	chr4:120166400-120189800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
22	chr4:120167000-120182200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:120167000-120184000	Strong transcription	Liver	Liver
24	chr4:120167000-120194400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:120167800-120192400	Weak transcription	Psoas Muscle	Psoas
26	chr4:120168200-120178600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:120170600-120182800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:120170600-120185600	Weak transcription	Stomach Mucosa	stomach
29	chr4:120170600-120192600	Weak transcription	Fetal Thymus	thymus
30	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:120171600-120180800	Weak transcription	NHEK	skin
32	chr4:120172800-120180000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:120173400-120179200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:120173400-120195200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:120173800-120179000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:120173800-120180200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:120174000-120179200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:120174200-120191800	Weak transcription	Fetal Lung	lung
39	chr4:120174200-120192600	Weak transcription	Brain Anterior Caudate	brain
40	chr4:120174400-120179200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:120174400-120180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:120174400-120191600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:120174800-120178200	Weak transcription	Spleen	Spleen
45	chr4:120175200-120178600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:120175200-120178600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:120175400-120178200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:120175400-120179600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:120175400-120189400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:120175600-120178400	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links