Variant report

Variant	rs72475857
Chromosome Location	chr8:27375860-27375861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:27374217..27376908-chr8:27401019..27403796,2	K562	blood:
2	chr8:27361273..27363477-chr8:27374284..27377176,2	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	0.93[AFR][1000 genomes]
rs57442348	0.90[AFR][1000 genomes]
rs59338093	1.00[AFR][1000 genomes]
rs59365325	0.90[AFR][1000 genomes]
rs59683646	1.00[AFR][1000 genomes]
rs60257378	1.00[AFR][1000 genomes]
rs60319016	0.86[AFR][1000 genomes]
rs60709011	1.00[AFR][1000 genomes]
rs61586133	0.90[AFR][1000 genomes]
rs6558001	0.96[AFR][1000 genomes]
rs6995058	0.93[AFR][1000 genomes]
rs7006736	0.96[AFR][1000 genomes]
rs7017595	0.93[AFR][1000 genomes]
rs72475804	0.93[AFR][1000 genomes]
rs72475805	0.86[AFR][1000 genomes]
rs72475823	0.90[AFR][1000 genomes]
rs72475825	0.90[AFR][1000 genomes]
rs72475878	1.00[AFR][1000 genomes]
rs72475879	1.00[AFR][1000 genomes]
rs72475898	1.00[AFR][1000 genomes]
rs72477587	0.93[AFR][1000 genomes]
rs72477588	0.93[AFR][1000 genomes]
rs72478904	0.93[AFR][1000 genomes]
rs73679204	0.96[AFR][1000 genomes]
rs73679208	0.96[AFR][1000 genomes]
rs7819348	1.00[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27358400-27380000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:27359400-27402400	Weak transcription	Fetal Brain Male	brain
3	chr8:27362200-27402800	Weak transcription	Fetal Heart	heart
4	chr8:27362800-27405200	Weak transcription	Psoas Muscle	Psoas
5	chr8:27364800-27394200	Weak transcription	Small Intestine	intestine
6	chr8:27365000-27391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:27365000-27393200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:27365200-27376600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:27365600-27395600	Weak transcription	Gastric	stomach
10	chr8:27365800-27376600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:27365800-27382800	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:27365800-27399600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:27367600-27382800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:27368200-27413400	Weak transcription	Fetal Kidney	kidney
15	chr8:27368600-27398600	Weak transcription	A549	lung
16	chr8:27368800-27395800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:27369600-27376200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:27369600-27379000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:27369600-27381800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:27370200-27383200	Weak transcription	Right Ventricle	heart
21	chr8:27370600-27377000	Weak transcription	Lung	lung
22	chr8:27370800-27383000	Weak transcription	Aorta	Aorta
23	chr8:27372400-27378400	Weak transcription	Spleen	Spleen
24	chr8:27372800-27385000	Strong transcription	Liver	Liver
25	chr8:27372800-27385000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:27372800-27413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:27373000-27377000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:27373000-27393200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:27373200-27376200	Weak transcription	Fetal Lung	lung
30	chr8:27373200-27376600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:27373400-27376400	Weak transcription	Brain Anterior Caudate	brain
32	chr8:27373400-27388800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:27373400-27394600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:27373600-27376600	Weak transcription	Brain Substantia Nigra	brain
35	chr8:27373600-27382000	Weak transcription	K562	blood
36	chr8:27373600-27383200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:27373600-27387000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:27373600-27406800	Strong transcription	Fetal Intestine Large	intestine
39	chr8:27373800-27376400	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:27373800-27379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:27373800-27382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:27374000-27377600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:27374000-27383000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:27374000-27383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:27374000-27398400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:27374200-27384800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:27374200-27403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:27374400-27378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:27375200-27377400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:27375200-27385600	Strong transcription	Rectal Mucosa Donor 29	rectum

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