Variant report

Variant	rs511996
Chromosome Location	chr6:13406090-13406091
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13405977..13407729-chr6:13485216..13487161,3	MCF-7	breast:
2	chr6:13405420..13408218-chr6:13438666..13440547,2	K562	blood:
3	chr6:13404530..13406535-chr6:13408392..13410401,3	K562	blood:
4	chr6:13395967..13397504-chr6:13405065..13407928,2	K562	blood:

Variant related genes	Relation type
ENSG00000187461	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12527593	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12528480	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16874132	0.82[CEU][hapmap]
rs16874136	0.82[CEU][hapmap]
rs16874138	0.82[CEU][hapmap]
rs16874139	0.82[CEU][hapmap]
rs16874145	0.82[CEU][hapmap]
rs16874152	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs16874153	0.82[CEU][hapmap]
rs16874155	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1992387	0.82[CEU][hapmap]
rs6914294	1.00[CEU][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs6926083	1.00[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs6936420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73366922	0.88[EUR][1000 genomes]
rs7746830	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750943	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370100	1.00[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13396200-13407000	Weak transcription	Gastric	stomach
2	chr6:13398200-13406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:13398400-13407400	Weak transcription	Placenta	Placenta
4	chr6:13399200-13406800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:13401600-13407000	Weak transcription	GM12878-XiMat	blood
6	chr6:13401800-13419000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:13403600-13409600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:13404000-13406200	Enhancers	Liver	Liver
9	chr6:13404000-13407400	Enhancers	Fetal Heart	heart
10	chr6:13404000-13408800	Enhancers	Brain Angular Gyrus	brain
11	chr6:13404000-13409000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:13404200-13407200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:13404400-13406400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:13404400-13407200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:13404400-13407400	Enhancers	A549	lung
16	chr6:13404400-13407800	Enhancers	NHLF	lung
17	chr6:13404400-13408200	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:13404400-13408800	Enhancers	Adipose Nuclei	Adipose
19	chr6:13404400-13408800	Enhancers	Left Ventricle	heart
20	chr6:13404400-13408800	Enhancers	Psoas Muscle	Psoas
21	chr6:13404400-13408800	Enhancers	Right Atrium	heart
22	chr6:13404400-13409000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:13404400-13411400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:13404800-13407000	Weak transcription	Fetal Lung	lung
25	chr6:13404800-13408600	Enhancers	Spleen	Spleen
26	chr6:13405000-13406200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:13405000-13406600	Weak transcription	Esophagus	oesophagus
28	chr6:13405000-13406600	Weak transcription	NHDF-Ad	bronchial
29	chr6:13405000-13407200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:13405000-13407400	Enhancers	Hela-S3	cervix
31	chr6:13405000-13407600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:13405000-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:13405000-13418400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:13405200-13406600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:13405200-13407600	Weak transcription	NHEK	skin
37	chr6:13405200-13408800	Enhancers	Brain Anterior Caudate	brain
38	chr6:13405400-13406200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:13405400-13406200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:13405400-13406600	Weak transcription	Small Intestine	intestine
41	chr6:13405400-13406800	Weak transcription	HMEC	breast
42	chr6:13405400-13407200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:13405400-13407200	Weak transcription	Osteobl	bone
44	chr6:13405400-13407400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:13405400-13407400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:13405400-13407400	Weak transcription	HSMM	muscle
47	chr6:13405400-13407600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:13405400-13407600	Weak transcription	NH-A	brain
49	chr6:13405400-13407800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:13405400-13409800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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