Variant report

Variant	rs12314295
Chromosome Location	chr12:12668450-12668451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10845555	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845558	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845564	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054927	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11054929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11054930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11054931	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11054938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11054950	0.85[AMR][1000 genomes]
rs12309339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2417188	1.00[AMR][1000 genomes]
rs2909054	0.86[AMR][1000 genomes]
rs2970802	0.92[AMR][1000 genomes]
rs2970803	1.00[AMR][1000 genomes]
rs4763287	0.96[AMR][1000 genomes]
rs7314806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961296	0.92[AMR][1000 genomes]
rs7978266	1.00[AMR][1000 genomes]
rs888201	0.96[AMR][1000 genomes]
rs888202	0.96[AMR][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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523366	chr12:12665246-12679124	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv33583	chr12:12665776-12679108	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:12660000-12668600	Enhancers	Brain Substantia Nigra	brain
14	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
16	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
17	chr12:12660400-12669600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:12660400-12670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:12660400-12670000	Weak transcription	HUVEC	blood vessel
20	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
21	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
23	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
24	chr12:12660400-12672800	Weak transcription	K562	blood
25	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:12660800-12670800	Weak transcription	Left Ventricle	heart
27	chr12:12660800-12672400	Weak transcription	Ovary	ovary
28	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
29	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:12661800-12669200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:12662000-12668600	Enhancers	Brain Anterior Caudate	brain
32	chr12:12662200-12669000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:12662200-12669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:12662200-12672400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:12662400-12669200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:12662600-12669800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:12663400-12672400	Weak transcription	HSMMtube	muscle
38	chr12:12663600-12671400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:12663600-12672000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:12664000-12670600	Weak transcription	Gastric	stomach
41	chr12:12664000-12690400	Weak transcription	NHLF	lung
42	chr12:12664200-12669800	Weak transcription	Small Intestine	intestine
43	chr12:12664400-12670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:12664600-12672600	Weak transcription	Osteobl	bone
45	chr12:12664800-12670000	Weak transcription	Stomach Mucosa	stomach
46	chr12:12664800-12673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:12665000-12670000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:12665000-12670000	Weak transcription	Lung	lung
49	chr12:12665000-12671800	Weak transcription	NH-A	brain
50	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial

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