Variant report

Variant	rs12287287
Chromosome Location	chr11:74519447-74519448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74514568..74516629-chr11:74518036..74519689,2	MCF-7	breast:
2	chr11:74459442..74461360-chr11:74517147..74519885,2	MCF-7	breast:
3	chr11:74518587..74521115-chr11:74524399..74526810,2	K562	blood:
4	chr11:74518587..74521101-chr11:74524616..74526810,3	K562	blood:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10160407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501418	1.00[EUR][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.83[AMR][1000 genomes]
rs11236247	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236293	0.83[AMR][1000 genomes]
rs11501909	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	1.00[AMR][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12271960	0.83[AMR][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12273852	0.83[AMR][1000 genomes]
rs12274227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275050	0.83[AMR][1000 genomes]
rs12275056	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12284331	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290339	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	0.83[AMR][1000 genomes]
rs12295546	0.83[AMR][1000 genomes]
rs13343191	1.00[AMR][1000 genomes]
rs1439677	0.83[AMR][1000 genomes]
rs28637653	0.85[AMR][1000 genomes]
rs4133526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111955	0.83[AMR][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498736	0.83[AMR][1000 genomes]
rs73498737	0.83[AMR][1000 genomes]
rs7928010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74494800-74530600	Weak transcription	NH-A	brain
2	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
3	chr11:74502600-74527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:74503000-74519600	Weak transcription	Aorta	Aorta
6	chr11:74503000-74522600	Weak transcription	NHLF	lung
7	chr11:74503000-74528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:74503000-74529400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:74503000-74530200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:74503000-74530600	Weak transcription	HSMMtube	muscle
11	chr11:74503000-74531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:74503000-74533000	Weak transcription	Right Ventricle	heart
13	chr11:74503200-74519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:74503200-74524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:74503200-74528600	Weak transcription	Lung	lung
16	chr11:74503200-74533000	Weak transcription	Gastric	stomach
17	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
18	chr11:74503800-74529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:74504000-74522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:74504200-74528600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:74504400-74522000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:74504400-74522800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:74504400-74531600	Weak transcription	HMEC	breast
24	chr11:74504400-74534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:74504600-74523200	Weak transcription	Hela-S3	cervix
26	chr11:74505400-74520800	Weak transcription	NHDF-Ad	bronchial
27	chr11:74505400-74521200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:74505400-74521200	Weak transcription	HSMM	muscle
29	chr11:74505400-74527600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:74505800-74519600	Weak transcription	Fetal Kidney	kidney
31	chr11:74505800-74521200	Weak transcription	Osteobl	bone
32	chr11:74506000-74521400	Weak transcription	HepG2	liver
33	chr11:74506200-74523800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:74506600-74521800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:74506600-74522000	Weak transcription	Fetal Thymus	thymus
36	chr11:74506600-74522400	Weak transcription	Liver	Liver
37	chr11:74507000-74530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:74508200-74520400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:74508200-74523400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:74508200-74523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:74508200-74529000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:74509000-74521200	Weak transcription	Fetal Intestine Large	intestine
43	chr11:74509000-74523000	Weak transcription	Fetal Stomach	stomach
44	chr11:74509000-74527800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:74509000-74528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:74509200-74519600	Weak transcription	Fetal Lung	lung
47	chr11:74509200-74520400	Weak transcription	Left Ventricle	heart
48	chr11:74509200-74530000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:74509200-74531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:74509400-74520600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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