Variant report

Variant	rs7306012
Chromosome Location	chr12:106741992-106741993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106740945..106746236-chr12:106747854..106753428,6	MCF-7	breast:
2	chr12:106741271..106744230-chr12:106772582..106774357,2	K562	blood:
3	chr12:106740979..106743105-chr12:106751518..106753064,2	MCF-7	breast:
4	chr12:106739391..106742209-chr12:106742866..106744499,2	K562	blood:

Variant related genes	Relation type
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10047654	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10507211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10746059	0.85[ASN][1000 genomes]
rs10746060	0.81[ASN][1000 genomes]
rs10778464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778466	0.81[ASN][1000 genomes]
rs10778468	0.81[ASN][1000 genomes]
rs10778470	0.81[ASN][1000 genomes]
rs10778471	0.81[ASN][1000 genomes]
rs10778473	0.81[ASN][1000 genomes]
rs10778474	0.81[ASN][1000 genomes]
rs10778475	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778477	0.90[EUR][1000 genomes]
rs10778478	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778480	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778481	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861571	0.92[CEU][hapmap]
rs10861577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10861578	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10861579	0.88[ASN][1000 genomes]
rs10861580	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10861582	0.85[ASN][1000 genomes]
rs10861583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861585	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10861586	0.85[ASN][1000 genomes]
rs10861587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs10861589	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861592	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10861593	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10861594	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861598	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861599	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10861604	0.81[ASN][1000 genomes]
rs10861609	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861613	0.90[EUR][1000 genomes]
rs11112933	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11112940	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112942	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112943	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112945	0.92[ASN][1000 genomes]
rs11112948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112949	0.85[ASN][1000 genomes]
rs11112951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11112952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11112953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11112956	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112957	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112971	0.81[ASN][1000 genomes]
rs11112979	0.81[ASN][1000 genomes]
rs11112980	0.81[ASN][1000 genomes]
rs11112986	0.81[ASN][1000 genomes]
rs11112995	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11113011	0.84[EUR][1000 genomes]
rs1134577	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611252	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11611815	1.00[ASN][1000 genomes]
rs11615682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11835357	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11835362	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12298876	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12305705	0.81[ASN][1000 genomes]
rs12309708	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12309758	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12312915	0.81[ASN][1000 genomes]
rs12370430	0.88[CEU][hapmap]
rs12422988	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424952	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[ASN][1000 genomes]
rs17218490	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17221107	0.90[EUR][1000 genomes]
rs17284674	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285274	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1921952	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141775	0.85[EUR][1000 genomes]
rs2243455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28669886	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888888	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34955444	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3851632	0.81[ASN][1000 genomes]
rs3851633	0.81[ASN][1000 genomes]
rs4509864	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55689816	0.85[ASN][1000 genomes]
rs58297001	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58767490	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60224628	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60635749	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60839334	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61940334	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940335	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941917	0.81[ASN][1000 genomes]
rs61941922	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61943670	0.96[ASN][1000 genomes]
rs61943672	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61943694	0.81[ASN][1000 genomes]
rs6539268	0.81[ASN][1000 genomes]
rs6539269	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6539270	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6539271	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67911933	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7132744	0.82[ASN][1000 genomes]
rs7132971	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134615	0.81[ASN][1000 genomes]
rs7134881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7135054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7137445	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7139139	0.81[ASN][1000 genomes]
rs7139249	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7297873	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303873	0.81[ASN][1000 genomes]
rs7306277	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308541	0.81[ASN][1000 genomes]
rs7309020	0.81[ASN][1000 genomes]
rs7310703	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7313040	0.90[EUR][1000 genomes]
rs7315549	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7961133	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963213	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965520	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7969743	0.81[ASN][1000 genomes]
rs7971581	0.81[ASN][1000 genomes]
rs7976305	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7306012	PIGA	trans	parietal	SCAN
rs7306012	CKAP4	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:106723600-106751000	Weak transcription	Fetal Kidney	kidney
4	chr12:106724000-106742600	Strong transcription	Primary B cells from cord blood	blood
5	chr12:106724000-106751000	Weak transcription	Fetal Brain Female	brain
6	chr12:106731200-106743600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:106733200-106742600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:106735800-106751000	Weak transcription	Colonic Mucosa	Colon
9	chr12:106736200-106751400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:106736600-106742800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:106736600-106751000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:106736800-106742000	Weak transcription	Ovary	ovary
13	chr12:106736800-106742600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:106736800-106745000	Weak transcription	Psoas Muscle	Psoas
15	chr12:106736800-106746600	Weak transcription	Pancreas	Pancrea
16	chr12:106736800-106751000	Weak transcription	Right Ventricle	heart
17	chr12:106737000-106742000	Weak transcription	HUVEC	blood vessel
18	chr12:106737000-106743800	Weak transcription	Aorta	Aorta
19	chr12:106737000-106751000	Weak transcription	Fetal Thymus	thymus
20	chr12:106737200-106742200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:106737200-106743000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:106737200-106743400	Weak transcription	NH-A	brain
23	chr12:106737200-106750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:106737200-106751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:106737200-106751000	Weak transcription	Fetal Lung	lung
26	chr12:106737400-106742200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:106737400-106742200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:106737400-106742400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:106737400-106742400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:106737400-106742600	Weak transcription	NHDF-Ad	bronchial
31	chr12:106737400-106750800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:106737400-106750800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:106737400-106751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:106737600-106743600	Weak transcription	HepG2	liver
35	chr12:106737600-106750800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:106737600-106751000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:106737600-106751000	Weak transcription	Fetal Intestine Large	intestine
38	chr12:106737800-106750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:106738400-106751000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:106738600-106744200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:106738600-106750800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:106738600-106750800	Weak transcription	Fetal Heart	heart
43	chr12:106738800-106751000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:106739400-106743600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:106739600-106742800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:106739800-106751000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:106740000-106743400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:106740200-106742000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:106740200-106751000	Weak transcription	Fetal Stomach	stomach
50	chr12:106740400-106743800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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