Variant report

Variant	rs2264758
Chromosome Location	chr12:106792952-106792953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10778482	0.80[ASN][1000 genomes]
rs10861597	0.81[AFR][1000 genomes]
rs10861599	0.81[AFR][1000 genomes]
rs12298876	0.81[AFR][1000 genomes]
rs12424092	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2244958	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2254755	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2264759	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288270	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7137445	0.81[AFR][1000 genomes]
rs7297873	0.81[AFR][1000 genomes]
rs7303737	0.86[ASN][1000 genomes]
rs7306277	0.81[AFR][1000 genomes]
rs7306326	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106753000-106793200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:106753000-106811800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:106753000-106815400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:106755400-106796400	Weak transcription	Spleen	Spleen
5	chr12:106764000-106821000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:106764400-106811800	Weak transcription	HUVEC	blood vessel
7	chr12:106767200-106808600	Weak transcription	NHDF-Ad	bronchial
8	chr12:106773000-106828000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:106773200-106808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:106774400-106834000	Weak transcription	Small Intestine	intestine
11	chr12:106774600-106819000	Weak transcription	Right Ventricle	heart
12	chr12:106774800-106811800	Weak transcription	NHEK	skin
13	chr12:106776800-106793400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:106776800-106821800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:106777400-106808200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:106779600-106821800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:106781200-106799600	Weak transcription	Osteobl	bone
18	chr12:106782000-106810000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:106783600-106818800	Weak transcription	Fetal Heart	heart
20	chr12:106786800-106793000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:106787000-106830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:106787200-106793200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:106787200-106808600	Weak transcription	NHLF	lung
24	chr12:106787600-106808400	Weak transcription	Psoas Muscle	Psoas
25	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
26	chr12:106787800-106793600	Weak transcription	Colonic Mucosa	Colon
27	chr12:106787800-106852400	Weak transcription	Gastric	stomach
28	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
29	chr12:106788000-106827200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:106788600-106799800	Weak transcription	K562	blood
31	chr12:106789000-106808800	Weak transcription	HMEC	breast
32	chr12:106789000-106829800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:106789200-106804000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:106789200-106805800	Weak transcription	Left Ventricle	heart
35	chr12:106789200-106807400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:106789200-106811800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:106789200-106821400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:106789400-106808200	Weak transcription	Fetal Kidney	kidney
39	chr12:106789400-106808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:106789400-106808600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:106789400-106812400	Weak transcription	Brain Anterior Caudate	brain
42	chr12:106789400-106819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:106789400-106821800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:106789600-106810400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:106790000-106799400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:106790000-106819000	Weak transcription	Lung	lung
47	chr12:106790200-106808800	Weak transcription	HSMMtube	muscle
48	chr12:106790200-106811800	Weak transcription	HepG2	liver
49	chr12:106790400-106811800	Weak transcription	Adipose Nuclei	Adipose
50	chr12:106790400-106821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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