Variant report

Variant	rs61080952
Chromosome Location	chr1:77939739-77939740
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11800652	0.89[ASN][1000 genomes]
rs11810135	0.89[ASN][1000 genomes]
rs12564592	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12564604	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12566093	0.89[ASN][1000 genomes]
rs12568374	0.89[ASN][1000 genomes]
rs12568376	0.89[ASN][1000 genomes]
rs2245189	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55848622	0.89[ASN][1000 genomes]
rs56910202	0.89[ASN][1000 genomes]
rs57744162	0.89[ASN][1000 genomes]
rs57754896	0.89[ASN][1000 genomes]
rs57940344	0.89[ASN][1000 genomes]
rs58143971	0.81[ASN][1000 genomes]
rs58397190	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58958142	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59029032	0.89[ASN][1000 genomes]
rs59043705	0.89[ASN][1000 genomes]
rs59076612	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59361407	0.89[ASN][1000 genomes]
rs59623467	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59913458	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60207382	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60645967	0.89[ASN][1000 genomes]
rs61360507	0.81[AFR][1000 genomes]
rs61553470	0.89[ASN][1000 genomes]
rs61575581	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664497	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6680677	0.82[ASN][1000 genomes]
rs74090603	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090608	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74090614	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74090617	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74090618	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74090619	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74092623	0.89[ASN][1000 genomes]
rs74092624	0.89[ASN][1000 genomes]
rs74092625	0.89[ASN][1000 genomes]
rs74092627	0.89[ASN][1000 genomes]
rs74092641	0.89[ASN][1000 genomes]
rs74092642	0.89[ASN][1000 genomes]
rs74092644	0.89[ASN][1000 genomes]
rs74092645	0.89[ASN][1000 genomes]
rs74092649	0.89[ASN][1000 genomes]
rs74092650	0.89[ASN][1000 genomes]
rs74092651	0.89[ASN][1000 genomes]
rs74092654	0.89[ASN][1000 genomes]
rs74092655	0.89[ASN][1000 genomes]
rs74092659	0.89[ASN][1000 genomes]
rs74092660	0.89[ASN][1000 genomes]
rs74092662	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7524107	0.89[ASN][1000 genomes]
rs7532905	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77933600-77944400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77934200-77948800	Weak transcription	Right Atrium	heart
5	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:77935600-77940000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:77935800-77940600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:77935800-77941400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:77937000-77940600	Strong transcription	Primary T cells from cord blood	blood
12	chr1:77938200-77948800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:77938400-77940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:77938600-77940400	Enhancers	NHDF-Ad	bronchial
15	chr1:77938800-77940400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:77938800-77940400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:77939000-77939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:77939000-77940200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:77939000-77940200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:77939000-77940200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:77939000-77940200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:77939000-77940200	Enhancers	NH-A	brain
23	chr1:77939000-77940200	Genic enhancers	NHLF	lung
24	chr1:77939000-77940400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:77939000-77940400	Enhancers	HSMM	muscle
26	chr1:77939000-77940400	Enhancers	Osteobl	bone
27	chr1:77939000-77940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:77939200-77945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:77939400-77940000	Enhancers	NHEK	skin
30	chr1:77939400-77940200	Enhancers	HUVEC	blood vessel
31	chr1:77939400-77940400	Enhancers	Brain Anterior Caudate	brain
32	chr1:77939400-77940400	Enhancers	HSMMtube	muscle
33	chr1:77939600-77939800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:77939600-77940000	Enhancers	Hela-S3	cervix
35	chr1:77939600-77940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:77939600-77940200	Enhancers	A549	lung
37	chr1:77939600-77940400	Enhancers	Brain Angular Gyrus	brain
38	chr1:77939600-77940400	Enhancers	Brain Substantia Nigra	brain
39	chr1:77939600-77940600	Enhancers	Brain Hippocampus Middle	brain
40	chr1:77939600-77940600	Enhancers	Fetal Stomach	stomach

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