Variant report

Variant	rs13279648
Chromosome Location	chr8:125711529-125711530
allele	C/T
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	chr8:125710219..125712075-chr8:125745092..125746820,2	K562	blood:
3	chr8:125710029..125712501-chr8:125825729..125827888,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13260195	0.97[ASN][1000 genomes]
rs16893083	0.83[ASN][1000 genomes]
rs16899959	0.88[ASN][1000 genomes]
rs35566676	0.91[ASN][1000 genomes]
rs67765269	0.81[ASN][1000 genomes]
rs71516753	0.81[ASN][1000 genomes]
rs71516754	0.82[AMR][1000 genomes];0.83[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	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
5	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:125701800-125714800	Weak transcription	NHEK	skin
7	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
10	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:125702800-125711600	Weak transcription	Psoas Muscle	Psoas
12	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
13	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
15	chr8:125703000-125711600	Weak transcription	NHLF	lung
16	chr8:125703000-125711800	Weak transcription	Brain Anterior Caudate	brain
17	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
18	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:125703600-125711600	Weak transcription	Brain Angular Gyrus	brain
20	chr8:125704800-125711600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:125705000-125711600	Weak transcription	Small Intestine	intestine
23	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:125705200-125712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:125705400-125713200	Weak transcription	Colonic Mucosa	Colon
26	chr8:125705600-125713800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:125705600-125720000	Weak transcription	Lung	lung
28	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
29	chr8:125706600-125711800	Weak transcription	Gastric	stomach
30	chr8:125706600-125720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:125706800-125715600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:125706800-125720400	Weak transcription	Stomach Mucosa	stomach
33	chr8:125707400-125721200	Weak transcription	Primary T cells from cord blood	blood
34	chr8:125708000-125716400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:125708000-125716400	Strong transcription	Liver	Liver
36	chr8:125708200-125711600	Weak transcription	Ovary	ovary
37	chr8:125708200-125712200	Strong transcription	Fetal Intestine Small	intestine
38	chr8:125709000-125711800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:125709200-125711800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:125709800-125711800	Strong transcription	Fetal Brain Female	brain
41	chr8:125709800-125712400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:125710000-125712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:125710000-125713400	Strong transcription	Primary B cells from cord blood	blood
44	chr8:125710200-125711600	Strong transcription	Adipose Nuclei	Adipose
45	chr8:125710200-125711600	Weak transcription	Brain Germinal Matrix	brain
46	chr8:125710200-125712000	Strong transcription	HMEC	breast
47	chr8:125710200-125712200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:125710200-125713600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:125710200-125716600	Strong transcription	Fetal Intestine Large	intestine
50	chr8:125710400-125712000	Strong transcription	Rectal Mucosa Donor 31	rectum

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