Variant report

Variant	rs11837107
Chromosome Location	chr12:64529967-64529968
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11829790	0.81[AFR][1000 genomes]
rs11831686	1.00[AMR][1000 genomes]
rs11835984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321345	1.00[AMR][1000 genomes]
rs73321355	1.00[AMR][1000 genomes]
rs7972663	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
2	chr12:64511000-64530200	Weak transcription	Right Atrium	heart
3	chr12:64511200-64539400	Weak transcription	HepG2	liver
4	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
5	chr12:64521400-64530800	Strong transcription	Fetal Intestine Large	intestine
6	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
7	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:64522600-64532800	Weak transcription	HMEC	breast
9	chr12:64522800-64540800	Weak transcription	Fetal Kidney	kidney
10	chr12:64523000-64530400	Weak transcription	Osteobl	bone
11	chr12:64523200-64530000	Weak transcription	NHLF	lung
12	chr12:64524200-64532800	Weak transcription	HSMM	muscle
13	chr12:64524200-64536200	Weak transcription	NHEK	skin
14	chr12:64524400-64535600	Weak transcription	HSMMtube	muscle
15	chr12:64524400-64541200	Weak transcription	Gastric	stomach
16	chr12:64524600-64535600	Weak transcription	Esophagus	oesophagus
17	chr12:64525000-64536000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:64525200-64535600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:64525600-64535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:64527200-64530200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:64527800-64530000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:64527800-64531400	Weak transcription	NH-A	brain
23	chr12:64527800-64535600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:64527800-64535800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:64527800-64536000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:64527800-64536000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:64527800-64536000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:64527800-64536200	Weak transcription	Liver	Liver
29	chr12:64527800-64536200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:64527800-64537000	Weak transcription	Right Ventricle	heart
31	chr12:64528000-64530000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:64528000-64530400	Weak transcription	NHDF-Ad	bronchial
33	chr12:64528000-64531200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:64528000-64535400	Weak transcription	Pancreas	Pancrea
35	chr12:64528000-64535600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:64528000-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:64528000-64535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:64528000-64535600	Weak transcription	Left Ventricle	heart
39	chr12:64528000-64535800	Weak transcription	Aorta	Aorta
40	chr12:64528000-64536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:64528000-64536000	Weak transcription	Placenta	Placenta
42	chr12:64528000-64536400	Weak transcription	Fetal Brain Male	brain
43	chr12:64528000-64538400	Weak transcription	Fetal Heart	heart
44	chr12:64528000-64540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:64528200-64530600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:64528200-64532800	Weak transcription	Ovary	ovary
49	chr12:64528200-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:64528200-64536000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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