Variant report

Variant	rs72477588
Chromosome Location	chr8:27397493-27397494
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:27395292..27397971-chr8:27398871..27403282,5	K562	blood:
2	chr8:27390029..27393274-chr8:27395288..27398418,3	K562	blood:
3	chr8:27389133..27391529-chr8:27396406..27398418,2	K562	blood:
4	chr8:27395090..27397790-chr8:27400784..27403120,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56187906	1.00[AFR][1000 genomes]
rs57442348	0.84[AFR][1000 genomes]
rs59338093	0.93[AFR][1000 genomes]
rs59365325	0.84[AFR][1000 genomes]
rs59683646	0.93[AFR][1000 genomes]
rs60257378	0.93[AFR][1000 genomes]
rs60319016	0.80[AFR][1000 genomes]
rs60709011	0.93[AFR][1000 genomes]
rs61586133	0.84[AFR][1000 genomes]
rs6558001	0.90[AFR][1000 genomes]
rs6995058	0.86[AFR][1000 genomes]
rs7006736	0.90[AFR][1000 genomes]
rs7017595	0.87[AFR][1000 genomes]
rs72475804	0.86[AFR][1000 genomes]
rs72475805	0.80[AFR][1000 genomes]
rs72475823	0.84[AFR][1000 genomes]
rs72475825	0.84[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	1.00[AFR][1000 genomes]
rs72478904	1.00[AFR][1000 genomes]
rs73679204	0.90[AFR][1000 genomes]
rs73679208	0.90[AFR][1000 genomes]
rs7819348	0.93[AFR][1000 genomes]
rs7838218	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv890696	chr8:27377162-27441010	Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv465627	chr8:27383901-27450535	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv610866	chr8:27383901-27450535	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv890697	chr8:27385450-27405207	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27359400-27402400	Weak transcription	Fetal Brain Male	brain
2	chr8:27362200-27402800	Weak transcription	Fetal Heart	heart
3	chr8:27362800-27405200	Weak transcription	Psoas Muscle	Psoas
4	chr8:27365800-27399600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:27368200-27413400	Weak transcription	Fetal Kidney	kidney
6	chr8:27368600-27398600	Weak transcription	A549	lung
7	chr8:27372800-27413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:27373600-27406800	Strong transcription	Fetal Intestine Large	intestine
9	chr8:27374000-27398400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:27374200-27403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:27377400-27399600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:27382400-27398800	Weak transcription	K562	blood
13	chr8:27384200-27404600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:27384200-27404800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:27387800-27406600	Strong transcription	Liver	Liver
16	chr8:27388400-27404000	Strong transcription	Fetal Stomach	stomach
17	chr8:27388600-27399400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:27388600-27403200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:27388600-27404000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:27388600-27406400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:27388800-27402800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr8:27388800-27404000	Strong transcription	Fetal Thymus	thymus
23	chr8:27389000-27400200	Strong transcription	Fetal Lung	lung
24	chr8:27389000-27402800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:27390600-27405200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:27391000-27402800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:27391200-27397600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:27391200-27402600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr8:27391400-27402800	Strong transcription	Ovary	ovary
30	chr8:27391600-27398400	Strong transcription	Aorta	Aorta
31	chr8:27392200-27399200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:27392400-27401800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:27392800-27398200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:27393000-27398800	Strong transcription	Left Ventricle	heart
35	chr8:27393000-27399600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:27394400-27398200	Strong transcription	Brain Anterior Caudate	brain
37	chr8:27394600-27406200	Strong transcription	Thymus	Thymus
38	chr8:27394800-27405800	Weak transcription	Small Intestine	intestine
39	chr8:27395000-27400800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:27395400-27397600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:27395400-27397800	Strong transcription	Colonic Mucosa	Colon
42	chr8:27395400-27398800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:27395400-27399400	Strong transcription	Right Ventricle	heart
44	chr8:27395400-27402200	Strong transcription	Pancreas	Pancrea
45	chr8:27395600-27397600	Strong transcription	Gastric	stomach
46	chr8:27395600-27399200	Strong transcription	Adipose Nuclei	Adipose
47	chr8:27395600-27399600	Weak transcription	Brain Substantia Nigra	brain
48	chr8:27395600-27406400	Strong transcription	Fetal Intestine Small	intestine
49	chr8:27395800-27397600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:27395800-27399000	Strong transcription	Esophagus	oesophagus

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