Variant report

Variant	rs11589247
Chromosome Location	chr1:169882910-169882911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169863487..169865405-chr1:169882715..169884373,2	K562	blood:
2	chr1:169881052..169883977-chr1:169885843..169888269,2	MCF-7	breast:
3	chr1:169861017..169866202-chr1:169878725..169885490,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489172	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062976	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800468	1.00[ASN][1000 genomes]
rs10919250	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919252	0.86[CEU][hapmap]
rs10919255	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919267	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10919283	0.82[YRI][hapmap]
rs11576078	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064636	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12084893	1.00[ASN][1000 genomes]
rs12089057	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760399	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330377	0.88[YRI][hapmap]
rs1541160	0.86[YRI][hapmap]
rs16862745	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529513	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17603022	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050628	0.82[YRI][hapmap]
rs2065950	0.88[YRI][hapmap]
rs2474708	0.88[YRI][hapmap]
rs476269	0.81[YRI][hapmap]
rs516793	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs522444	0.88[YRI][hapmap]
rs527261	0.86[YRI][hapmap]
rs541896	0.88[YRI][hapmap]
rs546894	0.86[YRI][hapmap]
rs549002	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs571398	0.83[YRI][hapmap]
rs614044	0.88[YRI][hapmap]
rs621437	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs628436	0.88[YRI][hapmap]
rs6427230	0.82[YRI][hapmap]
rs6427232	0.93[YRI][hapmap]
rs648576	0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs659476	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6668310	0.86[YRI][hapmap]
rs6678351	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6694304	0.88[YRI][hapmap]
rs6694855	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026213	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026223	0.80[AMR][1000 genomes]
rs73026243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026245	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539241	0.88[YRI][hapmap]
rs973015	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169872800-169887800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169875800-169889800	Weak transcription	Fetal Brain Female	brain
3	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
4	chr1:169876600-169883000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:169876800-169883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:169877000-169884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:169877600-169889800	Weak transcription	Lung	lung
8	chr1:169878400-169892200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:169878600-169883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:169880200-169892800	Weak transcription	Fetal Heart	heart
14	chr1:169881000-169884200	Weak transcription	Pancreas	Pancrea
15	chr1:169881000-169888000	Weak transcription	Fetal Brain Male	brain
16	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:169882200-169892000	Weak transcription	Brain Germinal Matrix	brain
18	chr1:169882400-169883600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:169882400-169883800	Enhancers	GM12878-XiMat	blood
20	chr1:169882600-169883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:169882800-169883000	Weak transcription	NHDF-Ad	bronchial
22	chr1:169882800-169886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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