Variant report

Variant	rs315527
Chromosome Location	chr1:84810815-84810816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1067072	1.00[ASN][1000 genomes]
rs12034653	0.83[AMR][1000 genomes]
rs1246546	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs1246549	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs1246550	0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160612	0.91[ASN][1000 genomes]
rs1690702	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699157	0.92[ASN][1000 genomes]
rs170278	0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172735	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs178367	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs178368	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186405	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs315520	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs315521	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315522	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315523	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315524	0.99[ASN][1000 genomes]
rs315525	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs315526	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315528	0.89[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs315530	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315531	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs315532	0.92[ASN][1000 genomes]
rs315533	0.93[ASN][1000 genomes]
rs315535	0.92[ASN][1000 genomes]
rs315536	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315538	0.99[ASN][1000 genomes]
rs315539	0.93[ASN][1000 genomes]
rs315540	0.91[ASN][1000 genomes]
rs315543	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs315544	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs315546	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315547	0.92[ASN][1000 genomes]
rs315548	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315549	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315552	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs315553	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs315554	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs315555	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs315556	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs316644	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs316660	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316661	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316662	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs316663	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316664	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs316665	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487220	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592464	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786653	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84795800-84827000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:84801400-84815000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:84802800-84815600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:84805800-84813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:84809800-84811200	Enhancers	NHDF-Ad	bronchial
6	chr1:84809800-84811400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:84809800-84811400	Enhancers	NHLF	lung
8	chr1:84810000-84811400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:84810200-84811200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:84810200-84813200	Weak transcription	HMEC	breast
11	chr1:84810200-84813400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:84810200-84813800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:84810200-84819800	Weak transcription	HSMM	muscle
14	chr1:84810400-84811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:84810400-84812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:84810400-84813000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:84810400-84813200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:84810600-84812600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:84810600-84813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:84810600-84813200	Weak transcription	Osteobl	bone
21	chr1:84810600-84814800	Weak transcription	Gastric	stomach
22	chr1:84810600-84815400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:84810800-84811800	Weak transcription	Fetal Lung	lung
24	chr1:84810800-84813000	Weak transcription	NH-A	brain

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