Variant report

Variant	rs17131175
Chromosome Location	chr1:70537943-70537944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70537552..70539411-chr1:70545771..70549953,3	K562	blood:
2	chr1:70531477..70533272-chr1:70537582..70540486,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10493462	1.00[EUR][1000 genomes]
rs12079486	1.00[EUR][1000 genomes]
rs12084223	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs17131144	1.00[EUR][1000 genomes]
rs17131147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131171	1.00[MEX][hapmap]
rs17131173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068176	1.00[EUR][1000 genomes]
rs57557771	1.00[EUR][1000 genomes]
rs58361762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59352671	1.00[EUR][1000 genomes]
rs6681058	1.00[EUR][1000 genomes]
rs72915800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917803	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929205	1.00[EUR][1000 genomes]
rs72929247	1.00[EUR][1000 genomes]
rs72929251	1.00[EUR][1000 genomes]
rs72929256	1.00[EUR][1000 genomes]
rs72943268	1.00[EUR][1000 genomes]
rs72943277	1.00[EUR][1000 genomes]
rs72943286	1.00[EUR][1000 genomes]
rs72945223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088023	1.00[EUR][1000 genomes]
rs74088028	1.00[EUR][1000 genomes]
rs970938	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs970939	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:70527600-70549200	Weak transcription	Fetal Brain Male	brain
3	chr1:70535000-70541800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:70536200-70538200	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:70536400-70538600	Enhancers	Brain Germinal Matrix	brain
6	chr1:70536600-70538600	Enhancers	Osteobl	bone
7	chr1:70536600-70538800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:70536600-70538800	Enhancers	NHLF	lung
9	chr1:70536600-70539000	Enhancers	HSMM	muscle
10	chr1:70536600-70539200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:70536600-70539400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:70536600-70541000	Enhancers	Fetal Lung	lung
13	chr1:70536800-70538800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:70536800-70539200	Enhancers	Fetal Stomach	stomach
15	chr1:70536800-70554000	Weak transcription	Fetal Brain Female	brain
16	chr1:70537000-70538400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:70537000-70538600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:70537000-70538800	Enhancers	NHDF-Ad	bronchial
19	chr1:70537200-70538200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:70537200-70555800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:70537400-70538200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:70537400-70538800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:70537600-70538000	Enhancers	Hela-S3	cervix
24	chr1:70537600-70538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:70537600-70538800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:70537600-70541400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links