Variant report

Variant	rs10747997
Chromosome Location	chr12:64532393-64532394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1067637	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747998	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs789722	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789724	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789729	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs789741	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs790193	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][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	chr12:64511200-64539400	Weak transcription	HepG2	liver
3	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
4	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
5	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:64522600-64532800	Weak transcription	HMEC	breast
7	chr12:64522800-64540800	Weak transcription	Fetal Kidney	kidney
8	chr12:64524200-64532800	Weak transcription	HSMM	muscle
9	chr12:64524200-64536200	Weak transcription	NHEK	skin
10	chr12:64524400-64535600	Weak transcription	HSMMtube	muscle
11	chr12:64524400-64541200	Weak transcription	Gastric	stomach
12	chr12:64524600-64535600	Weak transcription	Esophagus	oesophagus
13	chr12:64525000-64536000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:64525200-64535600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:64525600-64535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:64527800-64535600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:64527800-64535800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:64527800-64536000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:64527800-64536000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:64527800-64536000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:64527800-64536200	Weak transcription	Liver	Liver
22	chr12:64527800-64536200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:64527800-64537000	Weak transcription	Right Ventricle	heart
24	chr12:64528000-64535400	Weak transcription	Pancreas	Pancrea
25	chr12:64528000-64535600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:64528000-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:64528000-64535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:64528000-64535600	Weak transcription	Left Ventricle	heart
29	chr12:64528000-64535800	Weak transcription	Aorta	Aorta
30	chr12:64528000-64536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:64528000-64536000	Weak transcription	Placenta	Placenta
32	chr12:64528000-64536400	Weak transcription	Fetal Brain Male	brain
33	chr12:64528000-64538400	Weak transcription	Fetal Heart	heart
34	chr12:64528000-64540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:64528200-64532800	Weak transcription	Ovary	ovary
38	chr12:64528200-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:64528200-64536000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:64528200-64536000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:64528200-64536200	Weak transcription	Lung	lung
42	chr12:64528400-64532800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:64528400-64533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:64528400-64533200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:64528600-64540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:64528800-64532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:64528800-64536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:64529000-64535400	Weak transcription	Fetal Stomach	stomach
49	chr12:64529000-64536200	Weak transcription	Spleen	Spleen
50	chr12:64529200-64535800	Weak transcription	Fetal Muscle Leg	muscle

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