Variant report

Variant	rs12130046
Chromosome Location	chr1:67444043-67444044
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	chr1:67436820..67439164-chr1:67443904..67446434,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11208978	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11208985	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12034718	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497947	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1977337	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025609	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2031495	0.81[AMR][1000 genomes]
rs2147838	0.81[AMR][1000 genomes]
rs2815354	0.81[AMR][1000 genomes]
rs2815369	0.88[AMR][1000 genomes]
rs3008861	0.81[AMR][1000 genomes]
rs4553158	0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12130046	MIER1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
3	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
5	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
6	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:67407000-67445400	Strong transcription	Dnd41	blood
8	chr1:67408200-67448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:67409400-67446400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:67409400-67447600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:67410600-67446400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:67411200-67454800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:67411200-67456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:67413400-67447000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:67413400-67456400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:67413600-67446400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:67414600-67462000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:67416600-67446400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:67417000-67462000	Weak transcription	Right Ventricle	heart
23	chr1:67417400-67446200	Strong transcription	HSMM	muscle
24	chr1:67418000-67446400	Strong transcription	Osteobl	bone
25	chr1:67418200-67447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:67420200-67444200	Weak transcription	Fetal Heart	heart
27	chr1:67420600-67467000	Weak transcription	Gastric	stomach
28	chr1:67420800-67446200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:67420800-67446600	Weak transcription	Stomach Mucosa	stomach
30	chr1:67426800-67446000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:67427200-67455200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:67427400-67446000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:67427400-67446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:67427600-67446000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:67428200-67445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:67430600-67446000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:67430600-67459000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:67431800-67446400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:67431800-67446400	Weak transcription	Small Intestine	intestine
40	chr1:67431800-67448200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:67432000-67454000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:67432000-67465600	Weak transcription	Pancreas	Pancrea
43	chr1:67432000-67468600	Weak transcription	Lung	lung
44	chr1:67433200-67447600	Weak transcription	Fetal Brain Male	brain
45	chr1:67433200-67456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:67433600-67446600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:67433800-67444600	Strong transcription	NHDF-Ad	bronchial
48	chr1:67434000-67455400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:67434200-67445200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:67434600-67445200	Strong transcription	Liver	Liver

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