Variant report

Variant	rs73709147
Chromosome Location	chr8:119633609-119633610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28416228	1.00[AMR][1000 genomes]
rs55829046	1.00[AMR][1000 genomes]
rs57120226	1.00[AMR][1000 genomes]
rs60528605	1.00[AMR][1000 genomes]
rs73709145	1.00[AMR][1000 genomes]
rs73709146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709148	1.00[AMR][1000 genomes]
rs73709151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709156	1.00[AMR][1000 genomes]
rs73709159	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119632600-119634000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:119632600-119635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:119632800-119633800	Flanking Active TSS	NHEK	skin
4	chr8:119632800-119634000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:119632800-119634200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:119632800-119635000	Active TSS	Colonic Mucosa	Colon
7	chr8:119632800-119635000	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:119633000-119633800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:119633000-119633800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:119633000-119634000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:119633000-119634000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr8:119633000-119634000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr8:119633000-119634000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:119633000-119634000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119633000-119634200	Flanking Active TSS	Liver	Liver
16	chr8:119633000-119634600	Active TSS	Esophagus	oesophagus
17	chr8:119633000-119634600	Active TSS	Right Atrium	heart
18	chr8:119633000-119634800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:119633000-119634800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:119633000-119634800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr8:119633000-119634800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:119633000-119634800	Active TSS	Brain Germinal Matrix	brain
23	chr8:119633000-119634800	Active TSS	Fetal Intestine Large	intestine
24	chr8:119633000-119634800	Active TSS	Gastric	stomach
25	chr8:119633000-119635000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:119633000-119635000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:119633000-119635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:119633200-119633800	Flanking Active TSS	Hela-S3	cervix
29	chr8:119633200-119633800	Flanking Active TSS	HMEC	breast
30	chr8:119633200-119634200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:119633200-119634200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr8:119633200-119634200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr8:119633200-119634200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr8:119633200-119634200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr8:119633200-119634600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr8:119633200-119634600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:119633200-119634600	Active TSS	Brain Substantia Nigra	brain
38	chr8:119633200-119634600	Active TSS	Colon Smooth Muscle	Colon
39	chr8:119633200-119634600	Active TSS	Fetal Intestine Small	intestine
40	chr8:119633200-119634600	Active TSS	Lung	lung
41	chr8:119633200-119634600	Active TSS	Pancreas	Pancrea
42	chr8:119633200-119634600	Active TSS	Small Intestine	intestine
43	chr8:119633200-119634600	Active TSS	Stomach Mucosa	stomach
44	chr8:119633200-119634600	Active TSS	Thymus	Thymus
45	chr8:119633200-119634600	Active TSS	GM12878-XiMat	blood
46	chr8:119633200-119634800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:119633200-119634800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr8:119633200-119635000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:119633200-119635200	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr8:119633400-119633800	Active TSS	Primary B cells from cord blood	blood

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