Variant report

Variant	rs28408834
Chromosome Location	chr8:62491597-62491598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087488	1.00[AMR][1000 genomes]
rs10089170	1.00[AMR][1000 genomes]
rs10092232	1.00[AMR][1000 genomes]
rs10094823	1.00[AMR][1000 genomes]
rs10095066	0.85[AFR][1000 genomes]
rs10096419	1.00[AMR][1000 genomes]
rs10096503	1.00[AMR][1000 genomes]
rs10098405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099587	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100762	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101335	1.00[AMR][1000 genomes]
rs10104313	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104459	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108389	1.00[AMR][1000 genomes]
rs10113315	1.00[AMR][1000 genomes]
rs10216428	1.00[AMR][1000 genomes]
rs10216571	1.00[AMR][1000 genomes]
rs10216589	1.00[AMR][1000 genomes]
rs28374092	1.00[AMR][1000 genomes]
rs28437527	1.00[AMR][1000 genomes]
rs28460340	1.00[AMR][1000 genomes]
rs28478401	1.00[AMR][1000 genomes]
rs28491327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550168	1.00[AMR][1000 genomes]
rs28562585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582737	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592046	1.00[AMR][1000 genomes]
rs28642327	1.00[AMR][1000 genomes]
rs28664022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667387	1.00[AMR][1000 genomes]
rs28668164	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670089	1.00[AMR][1000 genomes]
rs28670423	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714370	1.00[AMR][1000 genomes]
rs28723591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28754430	1.00[AMR][1000 genomes]
rs28811131	0.85[AFR][1000 genomes]
rs28831834	1.00[AMR][1000 genomes]
rs9298054	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv967596	chr8:62489340-62494513	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
8	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
9	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
11	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
16	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
18	chr8:62467600-62492600	Weak transcription	Spleen	Spleen
19	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
20	chr8:62470800-62491600	Weak transcription	Fetal Brain Female	brain
21	chr8:62474800-62493400	Weak transcription	HMEC	breast
22	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
23	chr8:62476200-62492200	Weak transcription	Brain Germinal Matrix	brain
24	chr8:62480000-62492600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:62480000-62503600	Weak transcription	NHEK	skin
26	chr8:62480800-62493200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:62481000-62494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:62481600-62492600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:62481600-62493000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:62481600-62493400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:62481800-62493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:62485400-62492600	Weak transcription	Esophagus	oesophagus
34	chr8:62487000-62493800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:62487000-62494800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:62487400-62492200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:62487400-62494400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:62487800-62493200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:62487800-62494400	Weak transcription	Colonic Mucosa	Colon
40	chr8:62488600-62491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:62488600-62491600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:62488600-62493600	Weak transcription	Fetal Stomach	stomach
43	chr8:62488800-62493400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:62489000-62493000	Weak transcription	HepG2	liver
45	chr8:62489000-62502400	Weak transcription	Aorta	Aorta
46	chr8:62489000-62505000	Weak transcription	Fetal Brain Male	brain
47	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
48	chr8:62489200-62491600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:62489200-62491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:62489200-62492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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