Variant report

Variant	rs12269884
Chromosome Location	chr11:73119019-73119020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73118962..73122327-chr11:73122703..73124989,4	K562	blood:
2	chr11:73118868..73120938-chr11:73124092..73125726,2	MCF-7	breast:
3	chr11:73111799..73116221-chr11:73117237..73120913,5	K562	blood:
4	chr11:73117383..73120089-chr11:73130549..73132139,2	MCF-7	breast:

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];0.87[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];0.94[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];0.88[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]
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]
rs12282790	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]
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	0.86[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
7	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
8	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
9	chr11:73104800-73122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:73106400-73120200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:73110000-73120000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:73110600-73121600	Weak transcription	NHDF-Ad	bronchial
13	chr11:73110600-73123200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:73110800-73123000	Weak transcription	HUVEC	blood vessel
15	chr11:73110800-73123200	Weak transcription	NH-A	brain
16	chr11:73110800-73124000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:73111400-73123200	Strong transcription	Thymus	Thymus
18	chr11:73112800-73120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73112800-73121200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:73112800-73123400	Strong transcription	Brain Germinal Matrix	brain
21	chr11:73113000-73126200	Weak transcription	Small Intestine	intestine
22	chr11:73113400-73125000	Weak transcription	Right Atrium	heart
23	chr11:73113600-73132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73113800-73120600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:73113800-73121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:73113800-73122800	Strong transcription	Fetal Intestine Small	intestine
27	chr11:73114200-73120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:73114600-73123000	Strong transcription	Fetal Thymus	thymus
29	chr11:73114600-73125200	Strong transcription	Primary T cells from cord blood	blood
30	chr11:73114800-73122800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73115000-73121200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:73115200-73120600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:73115200-73126200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:73115200-73132200	Weak transcription	Fetal Heart	heart
35	chr11:73115200-73132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
37	chr11:73115400-73121400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:73115600-73122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73115800-73120800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:73115800-73121000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:73115800-73121000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:73115800-73121000	Strong transcription	Aorta	Aorta
43	chr11:73115800-73121200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:73115800-73122200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:73115800-73122400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:73115800-73122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:73116000-73120600	Strong transcription	Brain Hippocampus Middle	brain
48	chr11:73116000-73120800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:73116000-73121000	Strong transcription	Spleen	Spleen
50	chr11:73116000-73121200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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