Variant report

Variant	rs1454713
Chromosome Location	chr8:99025466-99025467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:
2	chr8:99024327..99027909-chr8:99029199..99033016,4	MCF-7	breast:
3	chr8:98881503..98883125-chr8:99023785..99026314,2	MCF-7	breast:
4	chr8:98917300..98918803-chr8:99024235..99026797,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2061052	0.81[JPT][hapmap]
rs2255317	0.88[JPT][hapmap]
rs2331692	0.81[JPT][hapmap]
rs2444857	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2444866	0.81[JPT][hapmap]
rs2444894	0.88[JPT][hapmap]
rs2444898	0.88[JPT][hapmap]
rs2513806	0.87[JPT][hapmap]
rs2513817	0.81[JPT][hapmap]
rs2513823	0.81[JPT][hapmap]
rs748324	0.88[JPT][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
5	chr8:99012000-99032000	Weak transcription	Gastric	stomach
6	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
11	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:99021000-99028600	Weak transcription	Liver	Liver
13	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:99021200-99053600	Weak transcription	A549	lung
16	chr8:99021400-99026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:99021400-99029400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:99021400-99029600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:99021400-99029800	Weak transcription	Brain Anterior Caudate	brain
20	chr8:99021400-99029800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:99021600-99028800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:99023000-99026000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99023000-99026000	Enhancers	NHLF	lung
27	chr8:99023000-99033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:99023200-99027600	Weak transcription	Ovary	ovary
29	chr8:99023200-99030000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:99023400-99027600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:99023600-99034800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:99024000-99027600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:99024000-99030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:99024000-99030000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:99024000-99030200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:99024000-99032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
40	chr8:99024200-99025600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:99024200-99025600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:99024200-99027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:99024200-99028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:99024200-99030000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:99024200-99032800	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:99024200-99033200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:99024200-99033200	Weak transcription	NHDF-Ad	bronchial
48	chr8:99024200-99033600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain

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