Variant report

Variant	rs28562585
Chromosome Location	chr8:62534194-62534195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

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	0.86[AFR][1000 genomes]
rs10096419	1.00[AMR][1000 genomes]
rs10096503	1.00[AMR][1000 genomes]
rs10098405	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099587	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101335	1.00[AMR][1000 genomes]
rs10104313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104459	0.86[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]
rs28408834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28460340	1.00[AMR][1000 genomes]
rs28478401	1.00[AMR][1000 genomes]
rs28491327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592046	1.00[AMR][1000 genomes]
rs28642327	1.00[AMR][1000 genomes]
rs28664022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667387	1.00[AMR][1000 genomes]
rs28668164	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670089	1.00[AMR][1000 genomes]
rs28670423	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714370	1.00[AMR][1000 genomes]
rs28723591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831834	1.00[AMR][1000 genomes]
rs9298054	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
3	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
6	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
10	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
11	chr8:62518600-62536200	Weak transcription	Hela-S3	cervix
12	chr8:62519000-62541000	Weak transcription	Primary T cells from cord blood	blood
13	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:62520200-62541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:62522000-62535000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:62522000-62535000	Weak transcription	Left Ventricle	heart
17	chr8:62522000-62535000	Weak transcription	Pancreas	Pancrea
18	chr8:62522000-62541000	Weak transcription	Ovary	ovary
19	chr8:62522000-62543400	Weak transcription	Spleen	Spleen
20	chr8:62522000-62544000	Weak transcription	Esophagus	oesophagus
21	chr8:62522200-62535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:62522200-62548800	Weak transcription	Placenta	Placenta
23	chr8:62522800-62541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:62523400-62549000	Weak transcription	Colonic Mucosa	Colon
25	chr8:62523600-62538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:62523600-62548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:62523800-62541000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:62524600-62541200	Weak transcription	Psoas Muscle	Psoas
29	chr8:62525800-62537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:62526200-62541200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:62526400-62552200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:62526600-62537400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:62526600-62549000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:62527400-62535800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:62527400-62541800	Weak transcription	NHEK	skin
36	chr8:62527800-62548800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:62528000-62549800	Weak transcription	Brain Angular Gyrus	brain
38	chr8:62529600-62541000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:62529600-62544200	Weak transcription	Lung	lung
40	chr8:62529800-62535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:62529800-62536200	Weak transcription	NH-A	brain
42	chr8:62529800-62537800	Weak transcription	HepG2	liver
43	chr8:62529800-62540800	Weak transcription	Fetal Stomach	stomach
44	chr8:62529800-62541400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:62529800-62543400	Weak transcription	Gastric	stomach
46	chr8:62530000-62536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:62530000-62536200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:62530000-62536600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:62530000-62537200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:62530000-62537800	Weak transcription	Stomach Smooth Muscle	stomach

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