Variant report

Variant	rs10744763
Chromosome Location	chr12:121883642-121883643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121883486..121886265-chr12:121890331..121891870,2	MCF-7	breast:
2	chr12:121871998..121875196-chr12:121881488..121886297,4	K562	blood:
3	chr12:121880833..121882674-chr12:121883238..121886175,2	MCF-7	breast:
4	chr12:121872793..121874717-chr12:121882378..121884801,2	K562	blood:
5	chr12:121788278..121791610-chr12:121879889..121884323,6	MCF-7	breast:
6	chr12:121879603..121883744-chr12:121903538..121907174,6	MCF-7	breast:
7	chr12:121881584..121884550-chr12:121902935..121904495,2	MCF-7	breast:
8	chr12:121836745..121839603-chr12:121879742..121884021,4	MCF-7	breast:
9	chr12:121881960..121883716-chr12:121885028..121886945,2	K562	blood:
10	chr12:121878996..121881919-chr12:121883454..121886452,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10444489	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10444491	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10444492	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1064951	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10744764	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10774594	0.96[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs10774595	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10774596	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10774597	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10774598	1.00[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10849873	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs10849875	0.84[EUR][1000 genomes]
rs10849877	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs10849878	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs10849879	0.92[EUR][1000 genomes]
rs10849880	0.96[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849882	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849884	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849885	0.91[ASW][hapmap];0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10849887	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849889	0.96[CEU][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10849891	0.96[CEU][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065549	0.91[EUR][1000 genomes]
rs11065551	0.91[EUR][1000 genomes]
rs11065563	0.92[EUR][1000 genomes]
rs11065565	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11065575	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11065576	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065577	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065578	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065579	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065582	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065583	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065585	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11838335	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs12427382	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12578785	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12581843	0.96[CEU][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12581861	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2288154	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3751131	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817543	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]
rs3817544	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817545	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817546	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817547	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3817549	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817551	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4081775	0.96[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs57185007	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57889600	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57971979	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58609847	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58849369	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59103597	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59190874	0.91[EUR][1000 genomes]
rs61953461	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61953462	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61953497	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61955092	0.90[EUR][1000 genomes]
rs61955131	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61955132	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61955138	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9300314	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs951498	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9634167	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9634168	0.87[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10744763	NME2P1	cis	cerebellum	SCAN
rs10744763	TMEM120B	cis	cerebellum	SCAN
rs10744763	TAOK3	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121850400-121887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:121851800-121891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:121852200-121884800	Strong transcription	Primary T cells from cord blood	blood
4	chr12:121853000-121884800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121861400-121903600	Weak transcription	Right Atrium	heart
6	chr12:121864000-121889200	Strong transcription	Fetal Intestine Small	intestine
7	chr12:121864600-121887200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:121865000-121884000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:121867600-121890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:121868000-121893600	Weak transcription	Psoas Muscle	Psoas
11	chr12:121869600-121886400	Weak transcription	Fetal Heart	heart
12	chr12:121873000-121883800	Strong transcription	Liver	Liver
13	chr12:121873600-121884400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:121874000-121889600	Weak transcription	HMEC	breast
15	chr12:121875000-121884800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:121875000-121886800	Weak transcription	Fetal Brain Male	brain
17	chr12:121875200-121883800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:121875200-121885000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:121875200-121889800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:121875200-121889800	Weak transcription	HUVEC	blood vessel
21	chr12:121875400-121884400	Strong transcription	Fetal Brain Female	brain
22	chr12:121875600-121883800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:121875600-121883800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:121875600-121884400	Strong transcription	Dnd41	blood
25	chr12:121875600-121889200	Strong transcription	Fetal Thymus	thymus
26	chr12:121876400-121884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121876800-121887400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:121877800-121889800	Weak transcription	NHDF-Ad	bronchial
29	chr12:121878200-121886400	Weak transcription	HSMM	muscle
30	chr12:121878600-121888800	Weak transcription	K562	blood
31	chr12:121878600-121889000	Weak transcription	Fetal Kidney	kidney
32	chr12:121879000-121885400	Weak transcription	NH-A	brain
33	chr12:121879200-121892400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:121879200-121898600	Weak transcription	HSMMtube	muscle
35	chr12:121879200-121903400	Weak transcription	Hela-S3	cervix
36	chr12:121879200-121904000	Weak transcription	Small Intestine	intestine
37	chr12:121879400-121888000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:121879800-121889600	Weak transcription	Osteobl	bone
39	chr12:121879800-121889800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:121880000-121889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:121880000-121903600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:121880000-121904000	Weak transcription	Aorta	Aorta
43	chr12:121880200-121889200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:121880600-121883800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:121880600-121886600	Weak transcription	Left Ventricle	heart
46	chr12:121880600-121889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:121880800-121884200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:121880800-121885200	Weak transcription	Ovary	ovary
49	chr12:121880800-121889800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:121880800-121902800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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