Variant report

Variant	rs1511020
Chromosome Location	chr4:120125899-120125900
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	chr4:120125197..120131905-chr4:120131994..120135569,17	K562	blood:
2	chr4:120125730..120127541-chr4:120130330..120131994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1033086	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932775	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1397606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397612	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050457	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs2389744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263382	1.00[ASN][1000 genomes]
rs4270572	1.00[ASN][1000 genomes]
rs4301093	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352459	1.00[ASN][1000 genomes]
rs4441740	1.00[ASN][1000 genomes]
rs4452412	0.96[EUR][1000 genomes]
rs4458436	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611910	1.00[ASN][1000 genomes]
rs4834758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834759	1.00[EUR][1000 genomes]
rs4834760	1.00[EUR][1000 genomes]
rs4834763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814008	1.00[ASN][1000 genomes]
rs6818150	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823192	0.87[AMR][1000 genomes]
rs6833531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853132	0.87[AMR][1000 genomes]
rs6853317	1.00[CEU][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes]
rs6853794	1.00[ASN][1000 genomes]
rs7658445	0.87[AMR][1000 genomes]
rs7668809	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668987	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684673	0.87[AMR][1000 genomes]
rs7690674	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs7692328	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9991222	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120101000-120132400	Weak transcription	Left Ventricle	heart
2	chr4:120117600-120133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120119600-120129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:120120000-120127400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120125200-120126400	Enhancers	Right Atrium	heart
6	chr4:120125400-120126000	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:120125400-120126200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:120125400-120126800	Enhancers	Fetal Heart	heart
9	chr4:120125400-120127000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:120125600-120126000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:120125600-120126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:120125600-120126400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:120125600-120126400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:120125600-120126400	Enhancers	Adipose Nuclei	Adipose
15	chr4:120125600-120126400	Flanking Active TSS	HUVEC	blood vessel
16	chr4:120125600-120129200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:120125600-120129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:120125600-120131400	Enhancers	HSMMtube	muscle
19	chr4:120125800-120126000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:120125800-120126000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:120125800-120126000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:120125800-120126000	Enhancers	A549	lung
23	chr4:120125800-120126200	Enhancers	Fetal Lung	lung
24	chr4:120125800-120126400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:120125800-120126400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:120125800-120126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:120125800-120126400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr4:120125800-120126600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:120125800-120126600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:120125800-120126600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:120125800-120126600	Enhancers	NHEK	skin
32	chr4:120125800-120128600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:120125800-120129000	Enhancers	Osteobl	bone
34	chr4:120125800-120131800	Enhancers	HSMM	muscle
35	chr4:120125800-120132200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links