Variant report

Variant	rs12282790
Chromosome Location	chr11:73132311-73132312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73120640..73123438-chr11:73131254..73134143,3	MCF-7	breast:
2	chr11:73129898..73132865-chr11:73133387..73134991,2	MCF-7	breast:
3	chr11:73131690..73133889-chr11:73150341..73153257,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10898919	1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235738	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235745	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];1.00[ASN][1000 genomes]
rs11235746	1.00[JPT][hapmap]
rs11235759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235809	1.00[JPT][hapmap]
rs11820929	1.00[JPT][hapmap]
rs11821094	1.00[JPT][hapmap]
rs11823913	1.00[JPT][hapmap]
rs11823923	1.00[JPT][hapmap]
rs11824614	1.00[JPT][hapmap]
rs11825028	0.89[ASN][1000 genomes]
rs11826896	1.00[JPT][hapmap]
rs11826909	1.00[JPT][hapmap]
rs11828904	1.00[JPT][hapmap]
rs12269884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274589	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12275766	1.00[JPT][hapmap]
rs12276892	1.00[JPT][hapmap]
rs12282282	1.00[JPT][hapmap]
rs12282871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12285885	1.00[JPT][hapmap]
rs12288753	1.00[JPT][hapmap]
rs12288934	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12290367	1.00[ASN][1000 genomes]
rs12290623	1.00[JPT][hapmap]
rs12290835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328886	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	1.00[JPT][hapmap]
rs1938777	1.00[JPT][hapmap]
rs2027761	1.00[JPT][hapmap]
rs2027763	1.00[JPT][hapmap]
rs2298469	1.00[JPT][hapmap]
rs2298807	1.00[JPT][hapmap]
rs3741149	1.00[JPT][hapmap]
rs3825005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3933402	1.00[JPT][hapmap]
rs56721062	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57181830	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57536508	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57727431	0.81[ASN][1000 genomes]
rs58342890	1.00[EUR][1000 genomes]
rs59809325	1.00[EUR][1000 genomes]
rs59955477	1.00[ASN][1000 genomes]
rs59991976	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60123349	1.00[EUR][1000 genomes]
rs60349984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60674215	1.00[EUR][1000 genomes]
rs61396858	1.00[EUR][1000 genomes]
rs61613696	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6592521	1.00[JPT][hapmap]
rs7101831	1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7113420	1.00[JPT][hapmap]
rs7114009	1.00[JPT][hapmap]
rs7114376	1.00[JPT][hapmap]
rs7118982	1.00[JPT][hapmap]
rs7123298	1.00[JPT][hapmap]
rs7123985	1.00[JPT][hapmap]
rs7125598	1.00[JPT][hapmap]
rs7125978	1.00[JPT][hapmap]
rs7131383	1.00[JPT][hapmap]
rs7131397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs725103	1.00[JPT][hapmap]
rs7342205	1.00[JPT][hapmap]
rs7930880	1.00[JPT][hapmap]
rs7934218	1.00[JPT][hapmap]
rs7935948	1.00[JPT][hapmap]
rs7941359	1.00[JPT][hapmap]
rs7944099	1.00[JPT][hapmap]
rs7944346	1.00[JPT][hapmap]
rs7952686	1.00[JPT][hapmap]
rs876480	1.00[JPT][hapmap]
rs880317	1.00[JPT][hapmap]
rs947837	1.00[JPT][hapmap]
rs9888198	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9888218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9971494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:73113600-73132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:73115200-73132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
7	chr11:73116800-73132600	Strong transcription	Primary B cells from cord blood	blood
8	chr11:73118800-73137600	Weak transcription	Colonic Mucosa	Colon
9	chr11:73120800-73132600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:73120800-73133000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:73120800-73133000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:73120800-73140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73120800-73141200	Weak transcription	Esophagus	oesophagus
14	chr11:73120800-73149000	Weak transcription	Fetal Lung	lung
15	chr11:73120800-73149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:73120800-73150000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:73121000-73133000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:73121000-73150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:73121600-73132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:73122400-73134400	Weak transcription	NHEK	skin
21	chr11:73122400-73163200	Weak transcription	Aorta	Aorta
22	chr11:73122600-73132600	Weak transcription	Lung	lung
23	chr11:73122600-73134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73122800-73139000	Weak transcription	Spleen	Spleen
25	chr11:73122800-73149600	Weak transcription	Gastric	stomach
26	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:73124000-73140800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:73126600-73137400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:73126600-73149400	Weak transcription	Small Intestine	intestine
30	chr11:73126800-73133000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:73126800-73137200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:73127800-73136600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:73127800-73137000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:73127800-73137400	Weak transcription	Right Ventricle	heart
35	chr11:73128000-73137400	Weak transcription	Psoas Muscle	Psoas
36	chr11:73128200-73134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:73128200-73137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:73128400-73132400	Weak transcription	Right Atrium	heart
39	chr11:73128400-73134200	Weak transcription	HMEC	breast
40	chr11:73128400-73135800	Weak transcription	Brain Substantia Nigra	brain
41	chr11:73128400-73136800	Weak transcription	HSMM	muscle
42	chr11:73128400-73137200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:73128400-73137400	Weak transcription	NH-A	brain
44	chr11:73128600-73137200	Weak transcription	NHLF	lung
45	chr11:73128600-73139400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:73128600-73139400	Weak transcription	NHDF-Ad	bronchial
47	chr11:73129200-73137400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:73129400-73152400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:73129600-73132400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:73129600-73132800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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