Variant report

Variant	rs12292210
Chromosome Location	chr11:75122421-75122422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75121805..75124577-chr11:75124847..75127280,2	K562	blood:
2	chr11:75122124..75127716-chr11:75129624..75133072,6	MCF-7	breast:
3	chr11:75122268..75124877-chr11:75130912..75134393,4	K562	blood:
4	chr11:75121805..75124460-chr11:75124847..75127735,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11539810	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272818	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12795298	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798081	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094303	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094304	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133186	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133187	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34503349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593568	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35378921	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75115600-75132200	Weak transcription	Fetal Brain Male	brain
2	chr11:75116000-75122800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:75116400-75124600	Weak transcription	Pancreas	Pancrea
4	chr11:75117000-75135200	Weak transcription	Right Ventricle	heart
5	chr11:75117200-75122800	Weak transcription	Spleen	Spleen
6	chr11:75117400-75122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:75117400-75123000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:75117600-75122800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:75117600-75122800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:75117600-75124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:75117600-75124800	Weak transcription	Esophagus	oesophagus
13	chr11:75117800-75122800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:75117800-75123000	Weak transcription	NHDF-Ad	bronchial
15	chr11:75117800-75123400	Weak transcription	Colonic Mucosa	Colon
16	chr11:75117800-75125400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:75118000-75124000	Weak transcription	Brain Substantia Nigra	brain
18	chr11:75118000-75124000	Weak transcription	Fetal Heart	heart
19	chr11:75118200-75122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:75118200-75122800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:75118200-75122800	Weak transcription	Left Ventricle	heart
22	chr11:75118200-75123000	Weak transcription	Ovary	ovary
23	chr11:75118200-75123000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:75118200-75124600	Weak transcription	Fetal Lung	lung
25	chr11:75118200-75124800	Weak transcription	Aorta	Aorta
26	chr11:75118200-75125200	Weak transcription	Psoas Muscle	Psoas
27	chr11:75118200-75129800	Weak transcription	Hela-S3	cervix
28	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
30	chr11:75118400-75122600	Weak transcription	Lung	lung
31	chr11:75118400-75122800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:75118400-75122800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:75118400-75122800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:75118400-75122800	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:75118400-75123200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:75118400-75124600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:75118400-75124600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:75118600-75122800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:75118600-75123000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:75119000-75122800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:75119200-75122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:75119400-75122800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:75119400-75122800	Weak transcription	K562	blood
44	chr11:75119400-75129200	Weak transcription	Stomach Mucosa	stomach
45	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:75119600-75122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:75119600-75123000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:75119600-75123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:75119600-75123200	Weak transcription	NHLF	lung
50	chr11:75119600-75125000	Weak transcription	HMEC	breast

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