Variant report

Variant	rs12477214
Chromosome Location	chr2:128127122-128127123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128126951..128129831-chr2:128134353..128136995,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10209678	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10211382	0.82[YRI][hapmap]
rs10803585	0.96[ASN][1000 genomes]
rs10928761	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs10928764	0.87[CEU][hapmap]
rs1143407	0.87[CEU][hapmap];0.84[MEX][hapmap]
rs11684068	0.90[CEU][hapmap]
rs11886231	0.85[ASN][1000 genomes]
rs11890187	0.93[ASN][1000 genomes]
rs11901355	0.89[ASN][1000 genomes]
rs12052483	0.96[ASN][1000 genomes]
rs12463451	0.90[ASN][1000 genomes]
rs12465955	0.82[ASN][1000 genomes]
rs12479003	0.97[ASN][1000 genomes]
rs12613413	0.87[CEU][hapmap];0.92[MEX][hapmap]
rs12622436	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12692064	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12989081	0.96[ASN][1000 genomes]
rs12989154	0.97[ASN][1000 genomes]
rs12991062	0.88[ASN][1000 genomes]
rs12991768	0.92[ASN][1000 genomes]
rs13026597	0.80[ASN][1000 genomes]
rs13026611	0.80[ASN][1000 genomes]
rs13029237	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs13429925	0.87[CEU][hapmap];0.92[MEX][hapmap]
rs1566823	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs17015199	0.93[ASN][1000 genomes]
rs1850689	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2069912	0.80[EUR][1000 genomes]
rs2069914	0.81[EUR][1000 genomes]
rs2069921	0.81[EUR][1000 genomes]
rs2090574	0.96[ASN][1000 genomes]
rs2134794	0.87[CEU][hapmap];0.84[MEX][hapmap]
rs2174270	0.82[ASN][1000 genomes]
rs2276583	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2276682	0.87[CEU][hapmap]
rs2896980	0.96[ASN][1000 genomes]
rs34703177	0.83[CEU][hapmap]
rs34832797	0.97[ASN][1000 genomes]
rs35293119	0.95[ASN][1000 genomes]
rs3738948	0.87[CEU][hapmap]
rs3768866	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4150407	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4150434	0.87[CEU][hapmap]
rs4150441	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4150454	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4150477	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4150495	0.85[ASN][1000 genomes]
rs4150496	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4150506	0.87[CEU][hapmap]
rs4233583	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4233584	0.90[ASN][1000 genomes]
rs4497825	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4662575	0.84[ASN][1000 genomes]
rs4662578	0.93[ASN][1000 genomes]
rs4662580	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4662717	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4662721	0.82[CEU][hapmap];0.92[MEX][hapmap]
rs4662722	0.94[ASN][1000 genomes]
rs4662724	0.87[CEU][hapmap];0.92[MEX][hapmap]
rs4662725	0.96[ASN][1000 genomes]
rs4662730	0.82[GIH][hapmap]
rs55905117	0.83[ASN][1000 genomes]
rs55998967	0.88[ASN][1000 genomes]
rs5936	0.82[GIH][hapmap]
rs59566504	0.89[ASN][1000 genomes]
rs62157549	0.93[ASN][1000 genomes]
rs62157555	0.94[ASN][1000 genomes]
rs62160261	0.87[ASN][1000 genomes]
rs6430935	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6430937	0.86[CEU][hapmap];0.92[MEX][hapmap]
rs6716392	0.83[CEU][hapmap];0.84[MEX][hapmap]
rs6731176	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6732279	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6735779	0.86[CEU][hapmap]
rs6747862	0.83[CEU][hapmap]
rs6761447	0.93[ASN][1000 genomes]
rs7568261	0.97[ASN][1000 genomes]
rs7580658	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7589451	0.96[ASN][1000 genomes]
rs867304	0.93[ASN][1000 genomes]
rs9636237	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs973760	0.81[EUR][1000 genomes]
rs9789510	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs12477214	MAP3K2	cis	Cerebellum	GTEx
rs12477214	AC068282.3	cis	Muscle Skeletal	GTEx
rs12477214	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs12477214	MAP3K2	cis	multi-tissue	Pritchard
rs12477214	AC068282.3	cis	lung	GTEx
rs12477214	MAP3K2	cis	Frontal Cortex	GTEx
rs12477214	AC068282.3	cis	Artery Aorta	GTEx
rs12477214	AC068282.3	cis	Whole Blood	GTEx
rs12477214	AC068282.3	cis	Artery Tibial	GTEx
rs12477214	AC068282.3	cis	Heart Left Ventricle	GTEx
rs12477214	AC068282.3	cis	Esophagus Muscularis	GTEx
rs12477214	AC068282.3	cis	Esophagus Mucosa	GTEx
rs12477214	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs12477214	AC068282.3	cis	Nerve Tibial	GTEx
rs12477214	AC068282.3	cis	Thyroid	GTEx
rs12477214	AC068282.3	cis	Stomach	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128105600-128127400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:128107800-128140200	Weak transcription	Gastric	stomach
3	chr2:128109800-128134000	Weak transcription	Lung	lung
4	chr2:128110200-128127800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:128112600-128127200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:128116800-128127600	Weak transcription	Thymus	Thymus
7	chr2:128120800-128139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:128120800-128142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:128121000-128127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:128121200-128135200	Weak transcription	Osteobl	bone
11	chr2:128121800-128127600	Weak transcription	Fetal Stomach	stomach
12	chr2:128122000-128127200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:128122200-128127800	Weak transcription	Ovary	ovary
14	chr2:128122200-128128000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:128122200-128142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:128123400-128127200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:128123400-128127200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:128123400-128127200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:128123400-128127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:128123400-128127400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:128123400-128127600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:128123400-128127800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:128123400-128127800	Weak transcription	Aorta	Aorta
24	chr2:128123400-128128200	Weak transcription	Right Ventricle	heart
25	chr2:128123400-128130400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:128123400-128131400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:128123400-128135200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:128123400-128137600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:128123400-128140400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
31	chr2:128123600-128127800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:128123600-128127800	Weak transcription	Psoas Muscle	Psoas
33	chr2:128123600-128128800	Weak transcription	Primary T cells from cord blood	blood
34	chr2:128123800-128127200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:128123800-128127400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:128123800-128127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:128123800-128128000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:128124000-128140000	Weak transcription	Left Ventricle	heart
39	chr2:128124400-128127400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:128124400-128127600	Weak transcription	A549	lung
41	chr2:128124400-128136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:128124800-128129200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:128125200-128131000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:128125400-128131200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:128125800-128127800	Weak transcription	Right Atrium	heart
46	chr2:128125800-128128200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:128125800-128136400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:128126000-128127200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:128126400-128127200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:128126800-128127600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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