Variant report

Variant	rs17011943
Chromosome Location	chr2:32621143-32621144
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	chr2:32619897..32622719-chr2:32623146..32626035,3	K562	blood:
2	chr2:32609238..32611905-chr2:32621057..32622626,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1046602	0.91[EUR][1000 genomes]
rs12470811	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470951	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011947	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011963	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs35368935	0.91[EUR][1000 genomes]
rs36060675	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41291167	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.82[EUR][1000 genomes]
rs4952258	0.84[MEX][hapmap]
rs4952259	0.89[EUR][1000 genomes]
rs4952260	0.91[EUR][1000 genomes]
rs55788900	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347254	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57813560	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61439415	0.84[EUR][1000 genomes]
rs62134039	0.82[EUR][1000 genomes]
rs62134043	0.82[EUR][1000 genomes]
rs62134044	0.82[EUR][1000 genomes]
rs62134045	0.80[EUR][1000 genomes]
rs62134050	0.91[EUR][1000 genomes]
rs62134052	0.91[EUR][1000 genomes]
rs62134054	0.91[EUR][1000 genomes]
rs62134059	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136263	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136264	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136269	1.00[ASN][1000 genomes]
rs62136276	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136278	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136279	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136280	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136281	1.00[ASN][1000 genomes]
rs62136282	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136284	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136285	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136286	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136287	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136302	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136306	1.00[ASN][1000 genomes]
rs62136326	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136348	1.00[ASN][1000 genomes]
rs6543655	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747906	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798728	0.82[EUR][1000 genomes]
rs72798733	0.89[EUR][1000 genomes]
rs72798777	1.00[ASN][1000 genomes]
rs72798784	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798788	1.00[ASN][1000 genomes]
rs72798796	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72800830	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609320	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:32583600-32653200	Weak transcription	Gastric	stomach
3	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
5	chr2:32604600-32624000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:32604600-32635000	Strong transcription	Fetal Thymus	thymus
7	chr2:32604600-32635200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:32604600-32637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:32604800-32635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:32605200-32622600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:32605200-32624800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:32605200-32635400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:32605200-32637200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:32605400-32621400	Weak transcription	Colonic Mucosa	Colon
15	chr2:32605400-32622600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:32605400-32623400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:32605400-32625200	Strong transcription	Fetal Intestine Large	intestine
18	chr2:32605400-32652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:32605600-32624800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:32605800-32634000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:32606000-32623600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:32606200-32622600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:32606800-32636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:32607000-32636200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:32607200-32650600	Weak transcription	Fetal Heart	heart
26	chr2:32607600-32623600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:32607600-32627600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:32607600-32639800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:32607800-32634000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:32607800-32637800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:32607800-32640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:32608800-32623400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:32608800-32624600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:32609000-32623400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:32609000-32632200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:32609800-32637400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:32610000-32624600	Strong transcription	HepG2	liver
38	chr2:32610200-32626200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:32610600-32623600	Strong transcription	Liver	Liver
40	chr2:32613400-32627400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:32613800-32645400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:32615200-32623200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:32615800-32622200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:32616000-32622200	Strong transcription	NHDF-Ad	bronchial
45	chr2:32616000-32624800	Strong transcription	HSMM	muscle
46	chr2:32616000-32625000	Strong transcription	Dnd41	blood
47	chr2:32616200-32622000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:32616400-32622200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:32616400-32622200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:32616400-32623600	Strong transcription	Adipose Nuclei	Adipose

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