Variant report

Variant	rs1166705
Chromosome Location	chr1:78357747-78357748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78353975..78356210-chr1:78357586..78359985,2	K562	blood:
2	chr1:78351152..78352744-chr1:78356404..78358036,2	K562	blood:
3	chr1:78353975..78356210-chr1:78357586..78359985,3	K562	blood:

Variant related genes	Relation type
ENSG00000162614	Chromatin interaction
ENSG00000235927	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10437022	0.85[AMR][1000 genomes]
rs10873956	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10873960	0.85[AMR][1000 genomes]
rs11162390	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162400	0.92[AMR][1000 genomes]
rs11162403	0.88[AMR][1000 genomes]
rs1166697	0.92[AMR][1000 genomes]
rs1166701	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1166702	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1166704	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166707	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166709	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11805735	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11807240	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12146104	0.87[AMR][1000 genomes]
rs12405212	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12409561	0.95[AMR][1000 genomes]
rs12723748	0.87[AMR][1000 genomes]
rs1335481	0.82[AMR][1000 genomes]
rs1536160	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1539737	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1555798	0.92[AMR][1000 genomes]
rs1616949	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1626757	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17383213	0.90[AMR][1000 genomes]
rs17387365	0.90[AMR][1000 genomes]
rs1971368	0.82[AMR][1000 genomes]
rs2154138	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274257	0.92[AMR][1000 genomes]
rs2296453	0.92[AMR][1000 genomes]
rs3767028	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4370803	0.85[AMR][1000 genomes]
rs4372306	0.88[AMR][1000 genomes]
rs4949828	0.95[AMR][1000 genomes]
rs4949829	0.95[AMR][1000 genomes]
rs57421725	0.95[AMR][1000 genomes]
rs6424640	0.87[AMR][1000 genomes]
rs6424650	0.85[AMR][1000 genomes]
rs6656888	0.85[AMR][1000 genomes]
rs6659045	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667733	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7417104	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs750720	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7538210	0.82[AMR][1000 genomes]
rs7544892	0.82[AMR][1000 genomes]
rs9324166	0.92[AMR][1000 genomes]
rs9659938	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9661193	0.92[AMR][1000 genomes]
rs9730688	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS 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	98 gene(s)	inside rSNPs	diseases
3	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78352400-78359800	Active TSS	Right Ventricle	heart
2	chr1:78353200-78359200	Active TSS	Right Atrium	heart
3	chr1:78353800-78358400	Active TSS	Aorta	Aorta
4	chr1:78354000-78358000	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:78355200-78360200	Weak transcription	Lung	lung
6	chr1:78355200-78361600	Weak transcription	Pancreas	Pancrea
7	chr1:78355600-78366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:78355800-78358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:78355800-78359200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:78355800-78359400	Weak transcription	Brain Germinal Matrix	brain
11	chr1:78355800-78383800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:78355800-78386200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:78356000-78359800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:78356000-78364200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:78356000-78365000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:78356200-78359000	Weak transcription	Fetal Lung	lung
17	chr1:78356200-78366200	Weak transcription	NHDF-Ad	bronchial
18	chr1:78356200-78408600	Weak transcription	HMEC	breast
19	chr1:78356400-78357800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:78356400-78358800	Weak transcription	Fetal Stomach	stomach
21	chr1:78356400-78365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:78356400-78396000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:78356600-78365400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:78357200-78357800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:78357200-78357800	Transcr. at gene 5' and 3'	Left Ventricle	heart
26	chr1:78357200-78358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:78357200-78358000	Enhancers	Colon Smooth Muscle	Colon
28	chr1:78357200-78358000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:78357200-78358200	Enhancers	Psoas Muscle	Psoas
30	chr1:78357200-78358600	Weak transcription	NHLF	lung
31	chr1:78357200-78359000	Enhancers	Fetal Heart	heart
32	chr1:78357200-78359600	Strong transcription	HSMM	muscle
33	chr1:78357200-78360200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:78357200-78360600	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:78357200-78361600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:78357200-78366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:78357400-78357800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:78357400-78358000	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr1:78357400-78358200	Genic enhancers	HSMMtube	muscle
40	chr1:78357400-78358200	Genic enhancers	Osteobl	bone
41	chr1:78357400-78360000	Strong transcription	NH-A	brain
42	chr1:78357400-78365600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:78357400-78384400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:78357600-78357800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:78357600-78359200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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