Variant report

Variant	rs12044278
Chromosome Location	chr1:67460977-67460978
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	chr1:67390720..67392859-chr1:67459230..67461663,2	K562	blood:
2	chr1:67460939..67461904-chr1:67673314..67674006,2	K562	blood:

Variant related genes	Relation type
ENSG00000162594	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10749766	0.92[JPT][hapmap]
rs10789219	0.92[JPT][hapmap]
rs1118392	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1118393	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11208976	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208978	0.96[ASN][1000 genomes]
rs11208979	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11208985	0.96[ASN][1000 genomes]
rs1137656	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039172	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041926	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131222	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12132068	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132532	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137403	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12143044	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535365	0.92[JPT][hapmap]
rs1570838	0.92[JPT][hapmap]
rs17497828	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497947	1.00[ASN][1000 genomes]
rs1886686	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925408	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1925409	0.90[JPT][hapmap]
rs1925410	0.90[JPT][hapmap]
rs1925411	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925412	0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925413	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2009311	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2009319	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2025608	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2031495	0.89[ASN][1000 genomes]
rs2065000	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2065001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2065002	0.90[JPT][hapmap]
rs2147838	0.86[ASN][1000 genomes]
rs2182143	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2755240	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755242	0.90[JPT][hapmap]
rs2755244	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755245	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755246	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755248	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755249	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2755250	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755251	0.90[JPT][hapmap]
rs2755253	0.89[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2755254	0.90[JPT][hapmap]
rs2755256	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs2755271	0.92[JPT][hapmap]
rs2815348	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815349	0.90[JPT][hapmap]
rs2815350	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2815351	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815352	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815354	0.93[ASN][1000 genomes]
rs2815357	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815359	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815360	0.92[JPT][hapmap]
rs2815361	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815363	0.90[JPT][hapmap]
rs2815368	0.92[JPT][hapmap]
rs2815369	0.93[ASN][1000 genomes]
rs2815370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815371	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2815373	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985794	0.94[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985795	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985797	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2985808	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2985810	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985811	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2985816	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985817	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985818	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985821	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985822	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985824	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985825	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985826	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985830	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008848	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008852	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008853	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008854	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008855	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008856	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008858	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008859	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008860	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008861	0.89[ASN][1000 genomes]
rs3008865	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008870	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008871	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008873	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008874	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008875	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008888	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008892	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3008894	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34367328	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35365746	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3736905	0.92[JPT][hapmap]
rs3929738	0.92[JPT][hapmap]
rs4388680	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4620509	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655658	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655659	0.85[EUR][1000 genomes]
rs4655662	0.90[JPT][hapmap]
rs4655663	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58680688	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6673462	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673725	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7511948	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs912797	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs975451	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs975452	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12044278	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
2	chr1:67414600-67462000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:67417000-67462000	Weak transcription	Right Ventricle	heart
4	chr1:67420600-67467000	Weak transcription	Gastric	stomach
5	chr1:67432000-67465600	Weak transcription	Pancreas	Pancrea
6	chr1:67432000-67468600	Weak transcription	Lung	lung
7	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:67443400-67466800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:67447200-67467400	Weak transcription	Stomach Mucosa	stomach
11	chr1:67447600-67466200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:67447600-67466600	Weak transcription	Psoas Muscle	Psoas
13	chr1:67447600-67470200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:67448000-67470800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:67448400-67461600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:67448800-67462000	Weak transcription	NHEK	skin
17	chr1:67448800-67466800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:67448800-67468600	Weak transcription	HSMMtube	muscle
19	chr1:67448800-67470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:67449200-67467400	Weak transcription	Fetal Brain Female	brain
22	chr1:67449400-67467000	Weak transcription	K562	blood
23	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:67449800-67475600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:67450600-67461400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:67450600-67461600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:67450600-67464600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:67450800-67461600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:67450800-67470600	Weak transcription	Brain Anterior Caudate	brain
31	chr1:67451000-67467600	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:67451200-67461400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
34	chr1:67452400-67461600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:67452400-67468400	Weak transcription	NHLF	lung
36	chr1:67452600-67461600	Weak transcription	HepG2	liver
37	chr1:67452600-67462400	Weak transcription	A549	lung
38	chr1:67452800-67471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:67453000-67464600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:67453200-67473200	Weak transcription	Colonic Mucosa	Colon
41	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:67454000-67463800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:67454800-67461600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
46	chr1:67455000-67461600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:67455000-67467000	Weak transcription	Fetal Kidney	kidney
48	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
50	chr1:67455200-67461800	Weak transcription	Dnd41	blood

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