Variant report

Variant	rs3817543
Chromosome Location	chr12:121900000-121900001
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	chr12:121893194..121896214-chr12:121897767..121900813,4	K562	blood:
2	chr12:121891205..121893580-chr12:121898932..121901141,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10444489	1.00[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10444491	0.92[AMR][1000 genomes]
rs10444492	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1064951	1.00[CEU][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744763	1.00[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10744764	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774594	0.96[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774595	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774596	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774597	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774598	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849873	0.96[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849877	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849878	0.96[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849879	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849880	0.96[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849882	0.92[CEU][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849884	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849885	0.96[CEU][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849887	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849888	0.84[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10849889	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849891	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065549	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065551	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065563	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065565	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065575	0.96[CEU][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065576	0.96[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065577	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065578	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065579	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065583	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065585	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11838335	1.00[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427382	0.96[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12578785	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581843	0.96[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12581861	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288154	1.00[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3751131	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3817544	1.00[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817545	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817546	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817547	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3817549	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817551	1.00[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4081775	0.96[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4980986	0.86[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4980994	0.82[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap]
rs57185007	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57889600	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57971979	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58609847	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58849369	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59103597	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59190874	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61953461	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61953462	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61953497	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61955092	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61955131	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61955132	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61955138	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489812	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9300314	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs951498	0.96[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9634167	1.00[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9634168	0.85[AMR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3817543	TAOK3	cis	parietal	SCAN
rs3817543	NME2P1	cis	cerebellum	SCAN
rs3817543	TMEM120B	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121861400-121903600	Weak transcription	Right Atrium	heart
2	chr12:121879200-121903400	Weak transcription	Hela-S3	cervix
3	chr12:121879200-121904000	Weak transcription	Small Intestine	intestine
4	chr12:121880000-121903600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:121880000-121904000	Weak transcription	Aorta	Aorta
6	chr12:121880800-121902800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:121881800-121903400	Weak transcription	A549	lung
8	chr12:121883200-121903600	Weak transcription	Brain Anterior Caudate	brain
9	chr12:121883400-121903200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:121885600-121903600	Weak transcription	Liver	Liver
11	chr12:121887200-121902200	Weak transcription	Fetal Brain Male	brain
12	chr12:121889400-121902000	Weak transcription	K562	blood
13	chr12:121889800-121903400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:121890200-121903400	Weak transcription	Fetal Lung	lung
15	chr12:121890400-121902800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121890400-121903400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:121890800-121902200	Weak transcription	HepG2	liver
18	chr12:121890800-121902200	Weak transcription	NHLF	lung
19	chr12:121890800-121902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121890800-121903400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:121890800-121903400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:121890800-121903400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:121890800-121903400	Weak transcription	HMEC	breast
24	chr12:121890800-121903400	Weak transcription	NHEK	skin
25	chr12:121890800-121903600	Weak transcription	NHDF-Ad	bronchial
26	chr12:121891000-121902200	Weak transcription	Pancreas	Pancrea
27	chr12:121891000-121903200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:121891000-121903200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:121891000-121903400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:121891200-121902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:121891200-121902200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:121891200-121902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:121891200-121902400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:121891200-121903600	Weak transcription	Colonic Mucosa	Colon
35	chr12:121891200-121903800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:121891400-121902200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:121891400-121903400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:121891400-121903600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:121891800-121904000	Weak transcription	Lung	lung
40	chr12:121892200-121903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:121892800-121902200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:121892800-121903600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121893000-121902200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:121893200-121903600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:121893200-121903800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:121893400-121902200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:121893800-121904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:121894000-121902200	Weak transcription	Spleen	Spleen
49	chr12:121894200-121901800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:121894200-121903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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