Variant report

Variant	rs12274589
Chromosome Location	chr11:73218694-73218695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73216345..73218979-chr11:73223737..73225348,2	MCF-7	breast:
2	chr11:73216954..73219144-chr11:73356797..73358531,2	K562	blood:

Variant related genes	Relation type
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10898919	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235738	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]
rs11235740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235745	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]
rs11235746	1.00[JPT][hapmap]
rs11235759	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]
rs11235775	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];0.89[ASN][1000 genomes]
rs11235778	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	1.00[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];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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12282871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285885	1.00[JPT][hapmap]
rs12288753	1.00[JPT][hapmap]
rs12288934	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290367	0.89[ASN][1000 genomes]
rs12290623	1.00[JPT][hapmap]
rs12290835	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]
rs12293596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328886	1.00[EUR][1000 genomes];0.89[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];0.89[ASN][1000 genomes]
rs3933402	1.00[JPT][hapmap]
rs56721062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57181830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57536508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59809325	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59955477	0.89[ASN][1000 genomes]
rs59991976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes]
rs60123349	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60349984	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60674215	1.00[EUR][1000 genomes]
rs60920919	0.89[ASN][1000 genomes]
rs61396858	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61613696	1.00[EUR][1000 genomes];1.00[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];0.89[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];1.00[ASN][1000 genomes]
rs9888218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9971494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv520130	chr11:73183598-73223776	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
2	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
3	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:73182000-73230000	Weak transcription	Dnd41	blood
5	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:73205200-73219600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
10	chr11:73206000-73222000	Weak transcription	Left Ventricle	heart
11	chr11:73206200-73224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:73207600-73225600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:73209400-73221600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:73209800-73219600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:73210200-73231400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:73212600-73220200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:73215600-73232200	Weak transcription	A549	lung
19	chr11:73216600-73223000	Weak transcription	Fetal Brain Male	brain
20	chr11:73216800-73218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:73217000-73219000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:73217400-73221800	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:73217400-73221800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:73217400-73231400	Weak transcription	Primary T cells from cord blood	blood
25	chr11:73217800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:73218000-73219000	Enhancers	Osteobl	bone
27	chr11:73218000-73219800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:73218400-73219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:73218400-73219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:73218600-73219000	Enhancers	NHLF	lung
31	chr11:73218600-73219600	Enhancers	NHDF-Ad	bronchial
32	chr11:73218600-73232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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