Variant report

Variant	rs793160
Chromosome Location	chr12:31568809-31568810
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10843946	0.89[EUR][1000 genomes]
rs1654008	0.89[EUR][1000 genomes]
rs1798769	0.89[EUR][1000 genomes]
rs1798781	0.89[EUR][1000 genomes]
rs1798782	0.89[EUR][1000 genomes]
rs1864912	0.89[EUR][1000 genomes]
rs4931491	0.89[EUR][1000 genomes]
rs708198	0.89[EUR][1000 genomes]
rs708199	0.89[EUR][1000 genomes]
rs708207	0.89[EUR][1000 genomes]
rs708211	0.89[EUR][1000 genomes]
rs7300482	0.89[EUR][1000 genomes]
rs7302238	0.89[EUR][1000 genomes]
rs7302818	0.89[EUR][1000 genomes]
rs793147	0.89[EUR][1000 genomes]
rs793152	0.89[EUR][1000 genomes]
rs793159	0.89[EUR][1000 genomes]
rs796963	0.89[EUR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
3	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
4	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
6	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
7	chr12:31540800-31572200	Weak transcription	Lung	lung
8	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
12	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
16	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
20	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
22	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
23	chr12:31550800-31573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:31555600-31571200	Weak transcription	Aorta	Aorta
25	chr12:31555600-31579600	Weak transcription	HepG2	liver
26	chr12:31556200-31574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
28	chr12:31556200-31587200	Weak transcription	NH-A	brain
29	chr12:31557000-31573000	Weak transcription	Gastric	stomach
30	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
31	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31560400-31577600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:31561200-31572600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:31562200-31571000	Weak transcription	Right Ventricle	heart
35	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:31564600-31569200	Strong transcription	Liver	Liver
38	chr12:31564600-31570000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:31564600-31571000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31564800-31572400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:31565200-31570200	Strong transcription	Fetal Intestine Large	intestine
42	chr12:31565800-31578400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:31566000-31569200	Strong transcription	A549	lung
44	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:31566400-31571600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:31566600-31569000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:31566600-31570800	Weak transcription	HSMMtube	muscle
48	chr12:31566600-31571000	Weak transcription	Left Ventricle	heart
49	chr12:31566600-31571600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:31566800-31570400	Weak transcription	Brain Inferior Temporal Lobe	brain

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