Variant report

Variant	rs2595236
Chromosome Location	chr3:158970188-158970189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158547228..158549702-chr3:158970117..158972247,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12635142	0.96[CEU][hapmap];0.87[CHB][hapmap];0.80[YRI][hapmap]
rs13074822	0.84[CHB][hapmap]
rs1375403	0.84[CHB][hapmap]
rs1375405	0.84[CHB][hapmap]
rs1375407	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs1448998	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs1449012	0.84[CHB][hapmap]
rs1449024	0.84[CHB][hapmap]
rs1449027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562671	0.84[CHB][hapmap]
rs1562672	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17795566	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1900861	0.83[CHB][hapmap]
rs1975601	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084507	0.83[CHB][hapmap]
rs2365478	0.91[CHB][hapmap]
rs2595232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2595238	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2595239	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2595242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2595243	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2595244	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2595245	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs2595246	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2595247	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2595248	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2595250	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2595258	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap]
rs2595263	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2621277	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap]
rs2621280	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2621282	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2621284	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2621290	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2621292	0.96[CEU][hapmap];0.87[CHB][hapmap];0.80[YRI][hapmap]
rs2621293	0.83[YRI][hapmap]
rs2621294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2621295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2621297	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2621299	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs2621300	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs2621306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2621310	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2621312	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2621313	0.89[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2621314	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs35192832	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3851358	0.81[CEU][hapmap]
rs4645169	0.91[CHB][hapmap]
rs4680494	0.91[CHB][hapmap]
rs4680495	0.91[CHB][hapmap]
rs4680500	0.83[CHB][hapmap]
rs6441255	0.84[CHB][hapmap]
rs6787941	0.83[CHB][hapmap]
rs6789496	0.82[CHB][hapmap]
rs6807076	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs73166218	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7428369	0.84[CHB][hapmap]
rs7634829	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs7646959	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs7649056	0.81[CEU][hapmap]
rs9879667	0.86[CHB][hapmap]

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	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3426016	chr3:158676623-158979242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158968600-158972000	Enhancers	Osteobl	bone
2	chr3:158968800-158970600	Enhancers	NH-A	brain
3	chr3:158969000-158971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:158969600-158970600	Enhancers	HUVEC	blood vessel
5	chr3:158969600-158970800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158969800-158970200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr3:158970000-158970200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:158970000-158970200	Enhancers	HSMM	muscle

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