Variant report

Variant	rs6485797
Chromosome Location	chr11:47947773-47947774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10769307	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039473	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039480	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099166	1.00[JPT][hapmap]
rs12270546	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12272781	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12273589	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1227997	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1227999	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228000	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228002	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228004	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1228008	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228018	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1228019	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228020	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228021	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228022	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228023	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228028	0.82[ASW][hapmap]
rs1228031	0.82[ASW][hapmap]
rs12290628	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12294218	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12295364	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1238706	0.82[ASW][hapmap]
rs1681604	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1681625	0.82[ASW][hapmap]
rs1681627	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1681631	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1681637	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1729281	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1729288	0.82[ASW][hapmap]
rs1729294	0.92[EUR][1000 genomes]
rs1729297	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17727140	0.83[CEU][hapmap]
rs2626567	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2697810	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930188	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930189	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930192	0.87[EUR][1000 genomes]
rs2930195	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2950888	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752883	0.87[EUR][1000 genomes]
rs4752886	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104376	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7111419	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7113640	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7116080	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7117644	0.88[EUR][1000 genomes]
rs7119280	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73462871	0.85[ASN][1000 genomes]
rs73462874	0.85[ASN][1000 genomes]
rs73462875	0.85[ASN][1000 genomes]
rs7928153	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7932759	0.90[EUR][1000 genomes]
rs7941441	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs900699	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47940200-47950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:47941400-47949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:47943000-47949600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:47943200-47949800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:47943200-47949800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47943200-47950000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:47944400-47949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:47945800-47949800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:47946000-47949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:47946200-47949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:47946200-47949800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:47946200-47949800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:47946200-47949800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:47946200-47949800	Weak transcription	Thymus	Thymus
16	chr11:47946200-47949800	Weak transcription	GM12878-XiMat	blood
17	chr11:47946200-47950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:47946200-47950000	Weak transcription	HSMMtube	muscle
19	chr11:47946200-47953000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:47946200-47953200	Weak transcription	NHDF-Ad	bronchial
21	chr11:47946400-47949200	Weak transcription	Fetal Thymus	thymus
22	chr11:47946400-47949800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:47946400-47950000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:47946400-47953200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:47946600-47949200	Weak transcription	Primary B cells from cord blood	blood
26	chr11:47946600-47949800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:47946600-47950000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:47946600-47950000	Weak transcription	Pancreas	Pancrea
29	chr11:47946800-47948200	Weak transcription	A549	lung
30	chr11:47947000-47949800	Weak transcription	Hela-S3	cervix
31	chr11:47947200-47948400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:47947200-47949800	Weak transcription	Placenta	Placenta

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