Variant report

Variant	rs1131473
Chromosome Location	chr1:152079823-152079824
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	chr1:152073757..152075757-chr1:152077578..152080436,2	K562	blood:
2	chr1:152078746..152081209-chr1:152082799..152085441,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10788821	0.80[EUR][1000 genomes]
rs1131471	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11588437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12033735	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs1496036	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs1496041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2069258	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2496253	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2935208	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2999563	0.90[JPT][hapmap]
rs3001974	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3001978	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs3122305	0.83[EUR][1000 genomes]
rs3124316	0.91[JPT][hapmap]
rs4579760	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4845419	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs4845420	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs6700989	0.80[EUR][1000 genomes]
rs72696919	0.88[EUR][1000 genomes]
rs924087	0.87[JPT][hapmap]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1131473	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152079600-152080200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr1:152079800-152080000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:152079800-152080000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:152079800-152080000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:152079800-152080000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:152079800-152080000	Enhancers	Pancreas	Pancrea
7	chr1:152079800-152080000	Flanking Bivalent TSS/Enh	A549	lung
8	chr1:152079800-152080000	Bivalent Enhancer	HMEC	breast
9	chr1:152079800-152080000	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr1:152079800-152080200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
11	chr1:152079800-152080200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
12	chr1:152079800-152080200	Flanking Bivalent TSS/Enh	NHEK	skin
13	chr1:152079800-152080400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:152079800-152080400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr1:152079800-152080400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr1:152079800-152080400	Flanking Bivalent TSS/Enh	Placenta	Placenta
17	chr1:152079800-152080600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr1:152079800-152080800	Enhancers	Gastric	stomach
19	chr1:152079800-152081200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
20	chr1:152079800-152081400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:152079800-152081600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:152079800-152081800	ZNF genes & repeats	Aorta	Aorta
23	chr1:152079800-152082000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
24	chr1:152079800-152082200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:152079800-152082800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:152079800-152083000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:152079800-152083200	ZNF genes & repeats	Lung	lung
28	chr1:152079800-152084400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links