Variant report

Variant	rs1147016
Chromosome Location	chr11:104579129-104579130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1120720	0.81[AFR][1000 genomes]
rs1147011	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1147013	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1147021	1.00[AFR][1000 genomes]
rs1147025	0.87[AFR][1000 genomes]
rs1147026	0.94[AFR][1000 genomes]
rs1147048	0.88[AFR][1000 genomes]
rs1200642	0.94[AFR][1000 genomes]
rs1200654	0.81[AFR][1000 genomes]
rs1200655	0.94[AFR][1000 genomes]
rs2845896	0.94[AFR][1000 genomes]
rs2845899	0.94[AFR][1000 genomes]
rs2845906	0.94[AFR][1000 genomes]
rs2845907	0.94[AFR][1000 genomes]
rs2849199	1.00[AFR][1000 genomes]
rs58022066	0.94[AFR][1000 genomes]
rs890449	0.89[AFR][1000 genomes]
rs890450	1.00[AFR][1000 genomes]
rs991272	0.94[AFR][1000 genomes]

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	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv832254	chr11:104412769-104607277	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2761706	chr11:104523335-104634024	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104576600-104580400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr11:104576600-104580600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:104577000-104580400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr11:104577000-104580400	Weak transcription	NHLF	lung
5	chr11:104577200-104580600	Enhancers	Primary T cells from cord blood	blood
6	chr11:104577200-104580600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:104577400-104580600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:104577600-104580600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:104577800-104580800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:104578000-104581000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:104578200-104579600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:104578200-104579600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:104578600-104579600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:104578600-104579600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:104579000-104579200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:104579000-104579400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:104579000-104579400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:104579000-104580000	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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