Variant report

Variant	rs12136942
Chromosome Location	chr1:67448996-67448997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67447480..67451162-chr1:67451490..67454791,4	K562	blood:
2	chr1:67447480..67451162-chr1:67451703..67454927,5	K562	blood:
3	chr1:67437520..67443940-chr1:67444772..67452250,9	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

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]
rs12130046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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]
rs2815347	1.00[JPT][hapmap]
rs2815354	0.81[AMR][1000 genomes]
rs2815369	0.88[AMR][1000 genomes]
rs2815370	1.00[YRI][hapmap]
rs2985822	1.00[YRI][hapmap]
rs3008861	0.81[AMR][1000 genomes]
rs3008892	1.00[YRI][hapmap]
rs4553158	0.83[CEU][hapmap];0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12136942	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	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:67411200-67454800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:67411200-67456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:67413400-67456400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:67414600-67462000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:67417000-67462000	Weak transcription	Right Ventricle	heart
14	chr1:67420600-67467000	Weak transcription	Gastric	stomach
15	chr1:67427200-67455200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:67430600-67459000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:67432000-67454000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:67432000-67465600	Weak transcription	Pancreas	Pancrea
19	chr1:67432000-67468600	Weak transcription	Lung	lung
20	chr1:67433200-67456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:67434000-67455400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:67435800-67453000	Strong transcription	Placenta	Placenta
23	chr1:67436400-67453400	Strong transcription	HMEC	breast
24	chr1:67436600-67457000	Strong transcription	NH-A	brain
25	chr1:67439200-67456400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:67439800-67456400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:67440000-67452800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:67440000-67453200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:67440600-67455800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:67440800-67449000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:67440800-67449200	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:67440800-67449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:67442000-67452800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:67443200-67450200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:67443200-67455000	Weak transcription	Spleen	Spleen
37	chr1:67443400-67466800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:67444000-67449400	Strong transcription	K562	blood
39	chr1:67444000-67455200	Weak transcription	Fetal Stomach	stomach
40	chr1:67445400-67458200	Weak transcription	Fetal Heart	heart
41	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:67446400-67449000	Strong transcription	Fetal Lung	lung
43	chr1:67446400-67451200	Strong transcription	Hela-S3	cervix
44	chr1:67446600-67451400	Strong transcription	Primary B cells from cord blood	blood
45	chr1:67446600-67456400	Strong transcription	HUVEC	blood vessel
46	chr1:67446800-67450800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:67447000-67450600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:67447200-67456200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:67447200-67467400	Weak transcription	Stomach Mucosa	stomach
50	chr1:67447400-67449200	Strong transcription	Fetal Brain Female	brain

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