Variant report

Variant	rs72475804
Chromosome Location	chr8:27358794-27358795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:27354459..27356178-chr8:27357856..27360057,2	K562	blood:
2	chr8:27358695..27360255-chr8:27369222..27371257,2	K562	blood:
3	chr8:27358151..27360608-chr8:27364133..27366772,2	K562	blood:
4	chr8:27348742..27350664-chr8:27358292..27361121,3	K562	blood:

Variant related genes	Relation type
ENSG00000120915	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56187906	0.86[AFR][1000 genomes]
rs57442348	0.90[AFR][1000 genomes]
rs59338093	0.93[AFR][1000 genomes]
rs59365325	0.90[AFR][1000 genomes]
rs59683646	0.93[AFR][1000 genomes]
rs60257378	0.93[AFR][1000 genomes]
rs60319016	0.93[AFR][1000 genomes]
rs60709011	0.93[AFR][1000 genomes]
rs61586133	0.90[AFR][1000 genomes]
rs6558001	0.96[AFR][1000 genomes]
rs6995058	1.00[AFR][1000 genomes]
rs7006736	0.89[AFR][1000 genomes]
rs7017595	0.93[AFR][1000 genomes]
rs72475805	0.93[AFR][1000 genomes]
rs72475823	0.90[AFR][1000 genomes]
rs72475825	0.90[AFR][1000 genomes]
rs72475857	0.93[AFR][1000 genomes]
rs72475878	0.93[AFR][1000 genomes]
rs72475879	0.93[AFR][1000 genomes]
rs72475898	0.93[AFR][1000 genomes]
rs72477587	0.86[AFR][1000 genomes]
rs72477588	0.86[AFR][1000 genomes]
rs72478904	0.86[AFR][1000 genomes]
rs73679204	0.96[AFR][1000 genomes]
rs73679208	0.90[AFR][1000 genomes]
rs7819348	0.93[AFR][1000 genomes]
rs7838218	0.90[AFR][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	nsv1020582	chr8:27309768-27406844	Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1019182	chr8:27314836-27398162	Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv831275	chr8:27328290-27481605	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27349200-27359600	Weak transcription	Ovary	ovary
2	chr8:27349200-27360200	Weak transcription	Aorta	Aorta
3	chr8:27349200-27361200	Weak transcription	Placenta	Placenta
4	chr8:27349200-27361800	Weak transcription	Right Ventricle	heart
5	chr8:27349200-27364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:27349200-27372000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:27349200-27372200	Weak transcription	Right Atrium	heart
8	chr8:27349400-27359000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:27349400-27359400	Weak transcription	Brain Substantia Nigra	brain
10	chr8:27349400-27359400	Weak transcription	Fetal Kidney	kidney
11	chr8:27349400-27359600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:27349400-27360400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:27349400-27360400	Weak transcription	Psoas Muscle	Psoas
14	chr8:27349400-27361200	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:27349400-27361600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:27349400-27362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:27349600-27359600	Weak transcription	A549	lung
18	chr8:27349800-27359600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:27349800-27359600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:27349800-27359800	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:27349800-27360400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:27349800-27361600	Weak transcription	Gastric	stomach
23	chr8:27350000-27359000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:27350000-27359400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:27350000-27359600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:27350000-27359600	Weak transcription	GM12878-XiMat	blood
27	chr8:27350000-27361400	Weak transcription	Fetal Heart	heart
28	chr8:27350200-27359000	Weak transcription	Left Ventricle	heart
29	chr8:27350400-27359600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:27350400-27361800	Weak transcription	Small Intestine	intestine
31	chr8:27351000-27360800	Weak transcription	Colonic Mucosa	Colon
32	chr8:27351200-27361800	Weak transcription	Stomach Mucosa	stomach
33	chr8:27352200-27360000	Weak transcription	Lung	lung
34	chr8:27355200-27372200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:27355800-27360000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:27355800-27360000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:27355800-27360000	Weak transcription	Pancreas	Pancrea
38	chr8:27356000-27361000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:27356200-27361400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:27356200-27370600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:27356400-27359800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:27356600-27360000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:27357000-27361800	Strong transcription	Fetal Intestine Large	intestine
44	chr8:27357000-27372200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:27357200-27361400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:27357200-27371000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:27357200-27371400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:27357400-27359600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:27357400-27361800	Strong transcription	HepG2	liver
50	chr8:27357600-27360000	Strong transcription	Liver	Liver

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