Variant report

Variant	rs12312567
Chromosome Location	chr12:57651620-57651621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57636983..57640050-chr12:57648004..57652445,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10083191	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172213	1.00[AMR][1000 genomes]
rs11557168	1.00[MEX][hapmap]
rs12296737	1.00[AMR][1000 genomes]
rs12299952	1.00[AFR][1000 genomes]
rs12310527	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312780	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314262	1.00[AMR][1000 genomes]
rs12315459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316507	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319666	1.00[MEX][hapmap]
rs12320772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322158	1.00[AMR][1000 genomes]
rs12322514	1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34100010	1.00[MEX][hapmap]
rs34660894	1.00[AMR][1000 genomes]
rs35827450	0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs35835063	1.00[MEX][hapmap]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57637600-57654200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
3	chr12:57645000-57652400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:57645200-57655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:57646000-57667600	Strong transcription	Thymus	Thymus
6	chr12:57646200-57657000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:57647000-57653000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:57647000-57655800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:57647000-57657000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:57647000-57657200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:57647200-57652600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:57647200-57654600	Strong transcription	Fetal Brain Female	brain
13	chr12:57647200-57655200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57647200-57655600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:57647200-57656600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:57647200-57657000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:57647200-57657200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:57647200-57657200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:57647200-57657400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:57647200-57657800	Strong transcription	Fetal Thymus	thymus
21	chr12:57647200-57668200	Strong transcription	Fetal Stomach	stomach
22	chr12:57647400-57651800	Weak transcription	HMEC	breast
23	chr12:57647400-57654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:57648000-57653800	Weak transcription	Right Atrium	heart
25	chr12:57648000-57657200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:57648000-57657200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:57648000-57657400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:57648000-57657400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:57648200-57653800	Strong transcription	Brain Germinal Matrix	brain
30	chr12:57648200-57654400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:57648200-57655800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:57648200-57657400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:57648200-57657400	Strong transcription	Primary T cells from cord blood	blood
34	chr12:57648400-57652200	Strong transcription	HSMM	muscle
35	chr12:57648400-57652400	Strong transcription	Pancreas	Pancrea
36	chr12:57648400-57652600	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:57648400-57652600	Strong transcription	Left Ventricle	heart
38	chr12:57648400-57653400	Strong transcription	Small Intestine	intestine
39	chr12:57648400-57654000	Strong transcription	Brain Hippocampus Middle	brain
40	chr12:57648400-57654600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:57648400-57654600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:57648400-57654800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr12:57648400-57654800	Strong transcription	Brain Angular Gyrus	brain
44	chr12:57648400-57654800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:57648400-57654800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:57648400-57655000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:57648400-57655400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:57648400-57656200	Strong transcription	Spleen	Spleen
49	chr12:57648400-57656600	Strong transcription	Colonic Mucosa	Colon
50	chr12:57648400-57656600	Strong transcription	Lung	lung

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