Variant report

Variant	rs13279330
Chromosome Location	chr8:125711305-125711306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125710245..125712051-chr8:125714540..125716829,2	MCF-7	breast:
2	chr8:125700027..125702376-chr8:125709128..125711425,2	K562	blood:
3	chr8:125710219..125712075-chr8:125745092..125746820,2	K562	blood:
4	chr8:125710029..125712501-chr8:125825729..125827888,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16899959	1.00[YRI][hapmap]
rs34410151	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs35116559	0.83[AMR][1000 genomes]
rs55777510	0.83[AMR][1000 genomes]
rs55905631	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66713150	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125701400-125711400	Weak transcription	HSMMtube	muscle
3	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
6	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:125701800-125714800	Weak transcription	NHEK	skin
8	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
11	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:125702800-125711600	Weak transcription	Psoas Muscle	Psoas
13	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
14	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
16	chr8:125703000-125711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125703000-125711400	Weak transcription	Right Atrium	heart
18	chr8:125703000-125711400	Weak transcription	NHDF-Ad	bronchial
19	chr8:125703000-125711600	Weak transcription	NHLF	lung
20	chr8:125703000-125711800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
22	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:125703600-125711600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:125704400-125711400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125704800-125711600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:125705000-125711600	Weak transcription	Small Intestine	intestine
28	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:125705200-125712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:125705400-125713200	Weak transcription	Colonic Mucosa	Colon
31	chr8:125705600-125711400	Weak transcription	Left Ventricle	heart
32	chr8:125705600-125711400	Weak transcription	Pancreas	Pancrea
33	chr8:125705600-125713800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:125705600-125720000	Weak transcription	Lung	lung
35	chr8:125705800-125711400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:125706000-125711400	Weak transcription	Fetal Stomach	stomach
37	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
38	chr8:125706600-125711400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:125706600-125711800	Weak transcription	Gastric	stomach
40	chr8:125706600-125720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:125706800-125715600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:125706800-125720400	Weak transcription	Stomach Mucosa	stomach
43	chr8:125707200-125711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:125707400-125721200	Weak transcription	Primary T cells from cord blood	blood
45	chr8:125707800-125711400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:125708000-125711400	Weak transcription	Fetal Heart	heart
47	chr8:125708000-125711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:125708000-125711400	Weak transcription	K562	blood
49	chr8:125708000-125716400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:125708000-125716400	Strong transcription	Liver	Liver

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