Variant report

Variant	rs12215715
Chromosome Location	chr6:11393074-11393075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11229608..11234180-chr6:11390847..11394778,6	MCF-7	breast:
2	chr6:11391901..11394391-chr6:11432829..11435706,3	MCF-7	breast:
3	chr6:11343010..11348187-chr6:11388549..11393263,7	MCF-7	breast:
4	chr6:11383728..11385611-chr6:11391826..11394332,2	K562	blood:
5	chr6:11229965..11235177-chr6:11385041..11393111,14	MCF-7	breast:
6	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1012502	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013678	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947204	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12193099	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12199545	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12210644	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215372	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12215894	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198555	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810451	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3798752	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs4276494	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4533978	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632886	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711271	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711272	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5019594	0.86[CHB][hapmap]
rs6916534	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6918440	0.86[CHB][hapmap]
rs6932496	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7738560	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7768351	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296000	0.86[CHB][hapmap]
rs9348868	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9357127	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368701	0.82[ASN][1000 genomes]
rs9461714	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469034	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11385800-11393400	Weak transcription	Aorta	Aorta
2	chr6:11386000-11393600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:11389200-11394800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:11389400-11394800	Enhancers	HUVEC	blood vessel
5	chr6:11390400-11393200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:11390800-11393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:11390800-11393400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:11391000-11393400	Weak transcription	HMEC	breast
9	chr6:11391000-11394000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:11392200-11394000	Flanking Active TSS	HepG2	liver
11	chr6:11392400-11393600	Enhancers	Lung	lung
12	chr6:11392400-11393800	Enhancers	Fetal Heart	heart
13	chr6:11392400-11393800	Enhancers	Left Ventricle	heart
14	chr6:11392400-11393800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:11392400-11394000	Enhancers	Fetal Intestine Small	intestine
16	chr6:11392400-11394000	Enhancers	Right Atrium	heart
17	chr6:11392400-11394400	Enhancers	Fetal Intestine Large	intestine
18	chr6:11392400-11394800	Enhancers	Placenta	Placenta
19	chr6:11392400-11395000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:11392400-11396000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:11392600-11393200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:11392600-11393200	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:11392600-11393800	Enhancers	Liver	Liver
24	chr6:11392600-11394200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:11392600-11395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:11392800-11393400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:11392800-11393600	Enhancers	Stomach Mucosa	stomach
28	chr6:11392800-11393600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:11392800-11394800	Enhancers	K562	blood
30	chr6:11393000-11393200	Enhancers	Small Intestine	intestine
31	chr6:11393000-11393200	Flanking Active TSS	A549	lung
32	chr6:11393000-11393600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:11393000-11393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:11393000-11393600	Enhancers	Adipose Nuclei	Adipose
35	chr6:11393000-11393600	Flanking Active TSS	Hela-S3	cervix
36	chr6:11393000-11393800	Enhancers	HSMMtube	muscle
37	chr6:11393000-11393800	Enhancers	Osteobl	bone
38	chr6:11393000-11394200	Enhancers	Fetal Lung	lung
39	chr6:11393000-11394200	Enhancers	Spleen	Spleen
40	chr6:11393000-11394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:11393000-11394800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:11393000-11394800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:11393000-11394800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:11393000-11394800	Enhancers	Fetal Kidney	kidney
45	chr6:11393000-11394800	Enhancers	NHEK	skin
46	chr6:11393000-11395000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:11393000-11396000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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