Variant report

Variant	rs72956408
Chromosome Location	chr1:95212507-95212508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:95212460-95212610	Caco-2	colon:	n/a	n/a
2	REST	chr1:95212491-95212818	K562	blood:	n/a	n/a
3	REST	chr1:95212448-95212903	HL-60	blood:	n/a	n/a
4	REST	chr1:95212504-95212906	PFSK-1	brain:	n/a	n/a
5	CTCF	chr1:95212500-95212650	AG09319	gingival:	n/a	n/a
6	CTCF	chr1:95212500-95212650	HPF	lung:	n/a	n/a
7	CTCF	chr1:95212500-95212650	HMF	breast:	n/a	n/a
8	CTCF	chr1:95212500-95212650	HCFaa	heart:	n/a	n/a
9	CTCF	chr1:95212480-95212630	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr1:95212500-95212650	HVMF	connective:	n/a	n/a
11	CTCF	chr1:95212500-95212650	NHDF-neo	bronchial:	n/a	n/a
12	REST	chr1:95212502-95212890	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
LINC01057	TF binding region
MIR378G	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11165239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057287	1.00[EUR][1000 genomes]
rs12058606	1.00[EUR][1000 genomes]
rs12058766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081570	1.00[EUR][1000 genomes]
rs12083162	1.00[EUR][1000 genomes]
rs12085965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086647	1.00[EUR][1000 genomes]
rs12086825	1.00[EUR][1000 genomes]
rs12089732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	1.00[EUR][1000 genomes]
rs3931243	1.00[EUR][1000 genomes]
rs56004399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075866	1.00[EUR][1000 genomes]
rs56088880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56989877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58484675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59906561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60642625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61371315	1.00[EUR][1000 genomes]
rs61634360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665321	1.00[EUR][1000 genomes]
rs72956422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974476	0.95[AFR][1000 genomes]
rs72974480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101528	1.00[EUR][1000 genomes]
rs74101530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540383	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95201400-95212600	Weak transcription	Right Atrium	heart
2	chr1:95203000-95212600	Weak transcription	Ovary	ovary
3	chr1:95205800-95212600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:95206000-95212600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:95206000-95214600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:95206200-95216600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:95210200-95212600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:95210200-95212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:95210200-95212600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:95210200-95212600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:95210200-95212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:95210400-95212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:95210400-95212600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:95210400-95212600	Weak transcription	Left Ventricle	heart
15	chr1:95210400-95212600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:95210600-95212600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:95211400-95213000	Enhancers	Placenta	Placenta
18	chr1:95211400-95213400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:95211400-95213600	Enhancers	Adipose Nuclei	Adipose
20	chr1:95211400-95215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:95211600-95212600	Weak transcription	Lung	lung
22	chr1:95211600-95213400	Enhancers	NHDF-Ad	bronchial
23	chr1:95211600-95213600	Enhancers	NHLF	lung
24	chr1:95211600-95213800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:95211800-95212600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:95211800-95213000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:95211800-95213200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:95211800-95219200	Weak transcription	Pancreas	Pancrea
29	chr1:95212000-95212600	Weak transcription	Spleen	Spleen
30	chr1:95212000-95212800	Enhancers	Right Ventricle	heart
31	chr1:95212000-95213400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:95212000-95213400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:95212200-95212600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:95212200-95212800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:95212200-95213200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:95212200-95213200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:95212400-95212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links