Variant report

Variant	rs2815312
Chromosome Location	chr1:77761377-77761378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747354	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167207	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1167215	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167217	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1177502	0.82[EUR][1000 genomes]
rs1463324	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602929	0.87[ASN][1000 genomes]
rs2602943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602945	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602946	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602948	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602951	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689676	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2689683	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799550	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2799554	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2799555	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799556	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799559	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799560	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799561	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799562	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799563	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815309	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815310	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815311	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815314	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815317	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815319	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2815324	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815325	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815326	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815327	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6662853	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7531411	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs936001	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9439799	0.91[ASN][1000 genomes]
rs9439819	0.81[EUR][1000 genomes];0.84[ASN][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	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77749800-77768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:77750600-77772400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:77750800-77768200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:77751000-77767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:77751400-77764600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:77755000-77768800	Strong transcription	NHDF-Ad	bronchial
11	chr1:77755200-77781600	Weak transcription	Osteobl	bone
12	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
13	chr1:77756800-77781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:77757600-77777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:77758000-77763000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:77758000-77778400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:77758400-77767200	Strong transcription	HSMM	muscle
18	chr1:77758600-77763000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:77758600-77771000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:77759000-77781600	Weak transcription	NHLF	lung
21	chr1:77759200-77765200	Weak transcription	Primary T cells from cord blood	blood
22	chr1:77759200-77766000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:77759400-77764200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:77759600-77765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:77761200-77763200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:77761200-77765200	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links