Variant report

Variant	rs1044535
Chromosome Location	chr11:71145778-71145779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71137647..71140040-chr11:71141812..71145984,4	K562	blood:
2	chr11:71144482..71146798-chr11:71158407..71160975,3	K562	blood:
3	chr11:71138540..71142714-chr11:71144455..71147360,4	K562	blood:
4	chr11:71144398..71146962-chr11:71155881..71158329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10751102	0.91[EUR][1000 genomes]
rs10792743	0.86[EUR][1000 genomes]
rs10898117	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11233606	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11608138	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.94[EUR][1000 genomes]
rs12281481	0.88[EUR][1000 genomes]
rs1623080	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1626291	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790325	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790326	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790327	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790329	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790334	1.00[GIH][hapmap];0.94[EUR][1000 genomes]
rs1790336	0.83[AMR][1000 genomes]
rs1790337	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790346	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790347	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790348	1.00[CHB][hapmap];0.94[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]
rs1790351	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790354	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790355	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790356	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790357	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790373	0.94[EUR][1000 genomes]
rs1792238	0.83[AMR][1000 genomes]
rs1792243	0.80[AMR][1000 genomes]
rs1792265	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1792268	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792270	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792272	0.93[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]
rs1792273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792274	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792275	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792276	0.97[EUR][1000 genomes]
rs1792278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1792279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792285	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792316	0.97[GIH][hapmap];0.94[EUR][1000 genomes]
rs1792319	0.97[EUR][1000 genomes]
rs2155425	0.86[EUR][1000 genomes]
rs2186773	0.83[EUR][1000 genomes]
rs2186778	0.81[ASW][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.91[EUR][1000 genomes]
rs2276353	0.91[EUR][1000 genomes]
rs2276354	0.91[EUR][1000 genomes]
rs2282617	0.91[EUR][1000 genomes]
rs2282618	0.91[EUR][1000 genomes]
rs2282619	0.83[EUR][1000 genomes]
rs2298772	0.88[EUR][1000 genomes]
rs2511279	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851693	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3763859	0.91[EUR][1000 genomes]
rs3763860	0.91[EUR][1000 genomes]
rs3794065	0.91[EUR][1000 genomes]
rs3794066	0.91[EUR][1000 genomes]
rs3794067	0.91[EUR][1000 genomes]
rs3814731	0.93[GIH][hapmap];0.91[EUR][1000 genomes]
rs3814734	0.91[EUR][1000 genomes]
rs4944063	0.93[GIH][hapmap];0.91[EUR][1000 genomes]
rs4944064	0.93[GIH][hapmap];0.91[EUR][1000 genomes]
rs4944075	0.88[EUR][1000 genomes]
rs4944997	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4945001	0.88[EUR][1000 genomes]
rs4945007	0.93[GIH][hapmap];0.86[EUR][1000 genomes]
rs4945013	0.83[EUR][1000 genomes]
rs6592154	0.91[EUR][1000 genomes]
rs6592180	0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs7110053	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7110316	0.89[EUR][1000 genomes]
rs7123973	0.91[EUR][1000 genomes]
rs7124675	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7129099	0.88[EUR][1000 genomes]
rs751389	0.93[GIH][hapmap];0.88[EUR][1000 genomes]
rs760241	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926054	0.83[EUR][1000 genomes]
rs7950584	0.86[EUR][1000 genomes]
rs949176	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949177	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs949178	0.93[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71135000-71150600	Weak transcription	NH-A	brain
2	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:71137600-71146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:71139200-71145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
6	chr11:71140800-71145800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:71140800-71154000	Weak transcription	Fetal Lung	lung
8	chr11:71140800-71154000	Weak transcription	HSMM	muscle
9	chr11:71141000-71145800	Weak transcription	HSMMtube	muscle
10	chr11:71141200-71148200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:71141800-71145800	Enhancers	Liver	Liver
12	chr11:71142400-71145800	Weak transcription	NHLF	lung
13	chr11:71142400-71146800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:71142600-71146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:71142600-71146000	Weak transcription	Thymus	Thymus
16	chr11:71142800-71147800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:71143000-71145800	Enhancers	Brain Anterior Caudate	brain
18	chr11:71143000-71148200	Weak transcription	NHDF-Ad	bronchial
19	chr11:71143000-71148400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:71143000-71150600	Weak transcription	Osteobl	bone
21	chr11:71143400-71145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:71143600-71146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:71143600-71146400	Weak transcription	Aorta	Aorta
24	chr11:71143600-71149400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:71143800-71146400	Enhancers	Placenta	Placenta
26	chr11:71144000-71145800	Enhancers	Esophagus	oesophagus
27	chr11:71144000-71145800	Weak transcription	HUVEC	blood vessel
28	chr11:71144000-71146200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:71144000-71147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
31	chr11:71144200-71145800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:71144200-71146000	Weak transcription	Dnd41	blood
33	chr11:71144200-71146400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:71144200-71147000	Genic enhancers	Spleen	Spleen
35	chr11:71144200-71152000	Weak transcription	Fetal Thymus	thymus
36	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
37	chr11:71144400-71146200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
39	chr11:71144600-71148000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:71144600-71148400	Weak transcription	Pancreas	Pancrea
41	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:71144800-71145800	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:71144800-71146200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:71144800-71147200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:71144800-71147200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:71144800-71149400	Weak transcription	Primary B cells from cord blood	blood
47	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell

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