Variant report

Variant	rs1012503
Chromosome Location	chr6:11365119-11365120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11363261..11366684-chr6:11366769..11368460,3	MCF-7	breast:
2	chr6:11363308..11365287-chr6:11389526..11391473,2	MCF-7	breast:
3	chr6:11345079..11346896-chr6:11363050..11365250,2	K562	blood:
4	chr6:11358576..11361790-chr6:11363070..11366053,4	MCF-7	breast:
5	chr6:11231312..11234053-chr6:11364162..11365969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10947217	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11751505	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11756278	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12661807	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17507230	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4074864	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713459	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713474	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713475	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713478	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56144403	0.81[EUR][1000 genomes]
rs56711429	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6901538	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72832925	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72832932	0.86[EUR][1000 genomes]
rs72832935	0.87[EUR][1000 genomes]
rs73366900	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7740502	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9469022	0.93[YRI][hapmap]

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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11355000-11367400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:11355200-11365200	Weak transcription	Left Ventricle	heart
3	chr6:11355200-11370800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:11357200-11371200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:11357600-11365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:11357600-11367600	Weak transcription	Aorta	Aorta
7	chr6:11357800-11365200	Weak transcription	Lung	lung
8	chr6:11357800-11366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:11357800-11370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:11358000-11367800	Weak transcription	Small Intestine	intestine
11	chr6:11358200-11367400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:11358800-11366400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:11358800-11367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:11359400-11369800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:11359600-11366400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:11360000-11366400	Weak transcription	Esophagus	oesophagus
17	chr6:11360200-11366800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:11361000-11366400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:11361200-11365800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:11361200-11366800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:11361200-11370600	Weak transcription	Thymus	Thymus
22	chr6:11361600-11367200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:11362200-11365400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:11362600-11366400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:11362800-11365600	Enhancers	HMEC	breast
26	chr6:11362800-11366800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:11363200-11365200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:11363600-11365200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:11363600-11365400	Strong transcription	Primary T cells from cord blood	blood
30	chr6:11363800-11367400	Enhancers	HepG2	liver
31	chr6:11364000-11365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:11364000-11365400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:11364200-11365400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:11364200-11365400	Enhancers	Right Atrium	heart
35	chr6:11364200-11365600	Enhancers	Stomach Mucosa	stomach
36	chr6:11364200-11365800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:11364200-11366000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:11364200-11366000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:11364200-11366800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:11364400-11365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:11364400-11366000	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr6:11364400-11366400	Weak transcription	Pancreas	Pancrea
43	chr6:11364600-11366800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:11364600-11369400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:11364600-11371200	Enhancers	HUVEC	blood vessel
46	chr6:11364600-11381200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:11364800-11365600	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:11364800-11366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:11364800-11366200	Enhancers	Liver	Liver
50	chr6:11364800-11370400	Weak transcription	Spleen	Spleen

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