Variant report

Variant	rs12027312
Chromosome Location	chr1:211832965-211832966
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211775676..211777293-chr1:211832136..211834585,2	K562	blood:
2	chr1:211820504..211824177-chr1:211831233..211834573,3	MCF-7	breast:
3	chr1:211760187..211762682-chr1:211831281..211833623,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1009834	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10158205	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10159325	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs10494939	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11119789	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11119791	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119792	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs11119793	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11802643	0.81[ASN][1000 genomes]
rs12031285	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12033864	0.81[ASN][1000 genomes]
rs12037104	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037708	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12039766	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12040695	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12569332	0.82[EUR][1000 genomes]
rs17490409	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028706	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2230489	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820370	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs3820371	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6698450	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs735834	0.84[ASN][1000 genomes]
rs7516751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7551769	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7553543	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12027312	IRF6	cis	cerebellum	SCAN
rs12027312	TMEM206	cis	cerebellum	SCAN
rs12027312	TPD52	trans	cerebellum	SCAN
rs12027312	CD34	cis	cerebellum	SCAN
rs12027312	NEK2	cis	cerebellum	SCAN
rs12027312	C1orf186	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211827600-211833800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:211827600-211837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:211827600-211847600	Weak transcription	HSMM	muscle
4	chr1:211827600-211847600	Weak transcription	NHEK	skin
5	chr1:211827800-211835600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:211827800-211836600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:211828200-211840400	Weak transcription	Fetal Lung	lung
8	chr1:211828400-211836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:211828600-211833600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:211828600-211835400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:211828600-211835800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:211828600-211835800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:211828600-211835800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:211828600-211836600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:211828600-211836600	Weak transcription	NHDF-Ad	bronchial
16	chr1:211828600-211837600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211828600-211837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:211828600-211837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:211828600-211837800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:211828600-211837800	Weak transcription	Osteobl	bone
21	chr1:211828600-211840200	Weak transcription	HMEC	breast
22	chr1:211828600-211842400	Weak transcription	NHLF	lung
23	chr1:211828600-211842800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211828600-211845600	Weak transcription	Fetal Heart	heart
25	chr1:211828600-211847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:211828600-211847600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:211828600-211847800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:211828600-211847800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:211828600-211848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:211828600-211848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:211828800-211835200	Weak transcription	Fetal Thymus	thymus
32	chr1:211828800-211836600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:211828800-211836600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:211828800-211837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:211828800-211837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:211828800-211837800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:211828800-211839200	Weak transcription	NH-A	brain
38	chr1:211828800-211840000	Weak transcription	HUVEC	blood vessel
39	chr1:211828800-211841800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:211828800-211847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:211829000-211835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:211829000-211836000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:211829000-211837400	Weak transcription	Hela-S3	cervix
44	chr1:211829000-211837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:211829000-211837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:211829000-211838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:211829000-211839400	Weak transcription	K562	blood
48	chr1:211829000-211842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:211829000-211847400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:211829000-211847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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