Variant report

Variant	rs17226637
Chromosome Location	chr2:182408122-182408123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10203974	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10204136	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1037624	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10490687	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1143676	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675041	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675121	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11675166	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680383	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686132	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11686167	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687348	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11689738	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469449	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13032116	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1349197	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1375488	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1375490	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1551033	0.92[ASN][1000 genomes]
rs17304246	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304344	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1823336	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1839266	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1964511	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1964512	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124442	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305583	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305584	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2368212	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2887192	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770104	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770105	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770107	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770110	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770112	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770115	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3816521	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41265949	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4368293	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667316	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56095368	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56136548	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62189983	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62191451	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62191453	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433921	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433922	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728886	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6747500	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757312	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs767500	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921257	0.90[EUR][1000 genomes];0.94[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:182389200-182410200	Weak transcription	HMEC	breast
4	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:182400600-182411000	Weak transcription	NH-A	brain
7	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
8	chr2:182402800-182414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:182403800-182408800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:182405600-182413800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:182405600-182414600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:182405600-182415200	Weak transcription	Dnd41	blood
13	chr2:182405800-182410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:182406000-182415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:182406200-182411000	Weak transcription	HSMMtube	muscle
16	chr2:182406200-182414600	Weak transcription	Thymus	Thymus
17	chr2:182406200-182414600	Weak transcription	GM12878-XiMat	blood
18	chr2:182406400-182415000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:182406600-182410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:182406800-182415400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:182406800-182418200	Weak transcription	Fetal Thymus	thymus

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