Variant report

Variant	rs11120292
Chromosome Location	chr1:214486345-214486346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214472980..214474486-chr1:214484951..214486993,2	K562	blood:
2	chr1:214476788..214478292-chr1:214484064..214486758,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1005709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10735513	0.82[ASN][1000 genomes]
rs10779613	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10864092	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11120290	0.80[JPT][hapmap];0.96[ASN][1000 genomes]
rs11120295	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1134647	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1135352	0.86[CHB][hapmap]
rs12024395	0.97[ASN][1000 genomes]
rs12057464	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124666	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2270704	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2291830	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2936017	0.86[CHB][hapmap]
rs3002297	0.86[CHB][hapmap]
rs3002300	0.86[CHB][hapmap]
rs3002303	0.86[CHB][hapmap]
rs3002307	0.86[CHB][hapmap]
rs3013451	0.86[CHB][hapmap]
rs4655242	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs4655245	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs4655335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6419473	0.82[ASN][1000 genomes]
rs6540817	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6540818	0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs6540819	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6540820	0.97[ASN][1000 genomes]
rs6540821	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.96[ASN][1000 genomes]
rs6540822	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs6660940	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6662275	0.97[ASN][1000 genomes]
rs6662864	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6665343	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6670066	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670349	0.82[ASN][1000 genomes]
rs6673096	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676709	0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs6687411	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6691083	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs6700976	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6701764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419021	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs7512745	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7519274	0.86[ASN][1000 genomes]
rs9429915	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429918	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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9970083	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11120292	RPS6KC1	cis	cerebellum	SCAN
rs11120292	C1orf107	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214455600-214487800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:214455600-214489000	Weak transcription	Ovary	ovary
3	chr1:214456400-214491800	Weak transcription	Pancreas	Pancrea
4	chr1:214459200-214491400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:214462000-214491800	Weak transcription	NHEK	skin
6	chr1:214469400-214488600	Weak transcription	Fetal Thymus	thymus
7	chr1:214469600-214488400	Weak transcription	Thymus	Thymus
8	chr1:214470600-214488400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:214470600-214488800	Weak transcription	HMEC	breast
10	chr1:214471000-214488000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:214471000-214489000	Weak transcription	A549	lung
12	chr1:214471000-214489400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:214471000-214517400	Weak transcription	Fetal Kidney	kidney
14	chr1:214476600-214492200	Weak transcription	K562	blood
15	chr1:214477000-214489800	Weak transcription	NH-A	brain
16	chr1:214477200-214487000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:214477200-214491600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:214477200-214492200	Weak transcription	Aorta	Aorta
19	chr1:214477400-214487600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:214477400-214489800	Weak transcription	NHLF	lung
21	chr1:214477400-214492200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:214477400-214506400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:214477400-214506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:214477400-214511000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:214477800-214488000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:214478600-214488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:214478800-214491800	Weak transcription	Spleen	Spleen
28	chr1:214478800-214492200	Weak transcription	Esophagus	oesophagus
29	chr1:214479000-214489000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:214479000-214503000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:214479200-214487600	Weak transcription	Brain Germinal Matrix	brain
32	chr1:214479200-214491800	Weak transcription	Lung	lung
33	chr1:214479400-214493000	Enhancers	Fetal Heart	heart
34	chr1:214479800-214490000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:214480200-214490800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:214482200-214510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:214482400-214488200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:214482400-214488800	Weak transcription	Fetal Stomach	stomach
39	chr1:214483000-214490400	Enhancers	Liver	Liver
40	chr1:214483600-214487600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:214483600-214488000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:214483600-214488200	Weak transcription	Fetal Lung	lung
43	chr1:214483600-214492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:214483600-214501600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:214483800-214488200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:214483800-214488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:214483800-214489800	Weak transcription	Osteobl	bone
48	chr1:214484000-214490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:214484200-214486600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:214484200-214488400	Weak transcription	Adipose Nuclei	Adipose

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