Variant report

Variant	rs4145952
Chromosome Location	chr4:120155806-120155807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120155653..120158497-chr4:120158665..120160752,2	K562	blood:
2	chr4:120153288..120155840-chr4:120986022..120987789,2	K562	blood:
3	chr4:120151295..120153749-chr4:120154352..120157062,2	K562	blood:
4	chr4:120132067..120136254-chr4:120151434..120157051,7	K562	blood:
5	chr4:120132397..120137812-chr4:120151434..120157051,7	K562	blood:
6	chr4:120154917..120156794-chr4:120375661..120377548,2	K562	blood:

Variant related genes	Relation type
ENSG00000245958	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000250950	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13139045	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814814	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv966480	chr4:120144708-120160847	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4145952	RP11-33B1.1	cis	Whole Blood	GTEx
rs4145952	RP11-384K6.6	cis	Whole Blood	GTEx
rs4145952	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs4145952	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs4145952	RP11-33B1.1	cis	lung	GTEx
rs4145952	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:120135400-120159000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:120136400-120156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:120139400-120165800	Weak transcription	Fetal Kidney	kidney
13	chr4:120140600-120167400	Weak transcription	Colonic Mucosa	Colon
14	chr4:120140800-120158800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:120141000-120158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
17	chr4:120143000-120156400	Weak transcription	Fetal Stomach	stomach
18	chr4:120143000-120156600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:120143000-120167200	Weak transcription	Placenta	Placenta
20	chr4:120143000-120176200	Weak transcription	Esophagus	oesophagus
21	chr4:120143800-120156400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:120143800-120167000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:120144000-120156400	Weak transcription	Fetal Lung	lung
24	chr4:120146000-120178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:120146400-120158800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:120151800-120158000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:120152200-120156200	Weak transcription	HepG2	liver
29	chr4:120152200-120159000	Weak transcription	Gastric	stomach
30	chr4:120152200-120167200	Weak transcription	Pancreas	Pancrea
31	chr4:120153200-120156000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:120153200-120156400	Weak transcription	Lung	lung
33	chr4:120153600-120158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:120153800-120156200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:120153800-120160600	Weak transcription	HSMM	muscle
36	chr4:120154800-120158400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:120154800-120161800	Weak transcription	A549	lung
38	chr4:120155000-120156000	Enhancers	NHLF	lung
39	chr4:120155000-120156200	Enhancers	Psoas Muscle	Psoas
40	chr4:120155000-120166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:120155200-120156000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:120155200-120156200	Weak transcription	Primary B cells from cord blood	blood
43	chr4:120155200-120156200	Weak transcription	NHEK	skin
44	chr4:120155200-120156600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:120155200-120156600	Weak transcription	Osteobl	bone
46	chr4:120155200-120157600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:120155200-120161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:120155200-120163400	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:120155200-120167000	Weak transcription	NH-A	brain
50	chr4:120155400-120156000	Weak transcription	Small Intestine	intestine

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