Variant report

Variant	rs12288807
Chromosome Location	chr11:75445992-75445993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75437719..75439941-chr11:75444285..75446896,2	K562	blood:
2	chr11:75444653..75447401-chr11:75455301..75457066,2	MCF-7	breast:
3	chr11:75445518..75448042-chr11:75450594..75453068,2	MCF-7	breast:
4	chr11:75434732..75436829-chr11:75444022..75446867,2	K562	blood:
5	chr11:75443297..75446374-chr11:75458769..75461045,3	MCF-7	breast:
6	chr11:75444770..75447014-chr11:75448691..75450973,4	K562	blood:
7	chr11:75442509..75444846-chr11:75445963..75448004,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12274372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290190	0.85[AMR][1000 genomes]
rs55758113	0.85[AMR][1000 genomes]
rs55916175	0.85[AMR][1000 genomes]
rs56709863	0.85[AMR][1000 genomes]
rs58442571	0.85[AMR][1000 genomes]
rs58700432	0.85[AMR][1000 genomes]
rs59187373	1.00[AMR][1000 genomes]
rs59330958	0.85[AMR][1000 genomes]
rs59337469	0.85[AMR][1000 genomes]
rs59484939	1.00[AMR][1000 genomes]
rs59790182	0.85[AMR][1000 genomes]
rs60012502	0.85[AMR][1000 genomes]
rs60178265	0.85[AMR][1000 genomes]
rs60331805	0.85[AMR][1000 genomes]
rs60369507	0.85[AMR][1000 genomes]
rs60594722	0.85[AMR][1000 genomes]
rs60606258	0.87[AMR][1000 genomes]
rs60617388	0.87[AMR][1000 genomes]
rs61338611	0.85[AMR][1000 genomes]
rs7119278	0.85[AMR][1000 genomes]
rs73491787	0.85[AMR][1000 genomes]
rs73491790	0.85[AMR][1000 genomes]
rs73491799	0.85[AMR][1000 genomes]
rs73491800	0.85[AMR][1000 genomes]
rs73491802	0.85[AMR][1000 genomes]
rs73493917	0.85[AMR][1000 genomes]
rs73502474	0.87[AMR][1000 genomes]
rs73504503	1.00[AMR][1000 genomes]
rs73504505	1.00[AMR][1000 genomes]
rs73504506	1.00[AMR][1000 genomes]
rs73504507	1.00[AMR][1000 genomes]
rs73504509	1.00[AMR][1000 genomes]
rs73504523	1.00[AMR][1000 genomes]
rs7945859	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75443200-75446000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75443200-75446800	Enhancers	Liver	Liver
3	chr11:75443200-75448800	Enhancers	Fetal Intestine Large	intestine
4	chr11:75443400-75446800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:75443800-75446600	Enhancers	Lung	lung
6	chr11:75444000-75446000	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:75444000-75446200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:75444000-75446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:75444000-75446800	Enhancers	Right Ventricle	heart
10	chr11:75444000-75447000	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:75444200-75446400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:75444200-75446600	Enhancers	Colonic Mucosa	Colon
13	chr11:75444200-75446800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:75444200-75447000	Enhancers	Adipose Nuclei	Adipose
15	chr11:75444200-75447000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:75444400-75446200	Enhancers	Stomach Smooth Muscle	stomach
17	chr11:75444400-75446800	Enhancers	Left Ventricle	heart
18	chr11:75444400-75446800	Enhancers	Right Atrium	heart
19	chr11:75444400-75447200	Enhancers	Fetal Heart	heart
20	chr11:75444600-75447400	Enhancers	Fetal Intestine Small	intestine
21	chr11:75444800-75446000	Enhancers	Psoas Muscle	Psoas
22	chr11:75445000-75446200	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:75445000-75447400	Enhancers	Fetal Thymus	thymus
24	chr11:75445200-75446000	Flanking Active TSS	Stomach Mucosa	stomach
25	chr11:75445200-75446800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:75445200-75455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75445400-75446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:75445600-75446000	Enhancers	Spleen	Spleen
29	chr11:75445600-75446200	Enhancers	Gastric	stomach
30	chr11:75445800-75446000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr11:75445800-75446000	Flanking Active TSS	HepG2	liver
32	chr11:75445800-75446200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:75445800-75446400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:75445800-75446400	Enhancers	Thymus	Thymus

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