Variant report

Variant	rs17791091
Chromosome Location	chr8:62463597-62463598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10435605	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985683	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985769	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11992824	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927489	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16927563	0.89[EUR][1000 genomes]
rs16927568	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927574	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3802288	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4322002	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379440	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55767984	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58048003	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59943109	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61226013	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66559425	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67425465	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67463566	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67933413	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72657075	0.84[EUR][1000 genomes]
rs72657100	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657101	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659004	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72659008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822584	0.89[EUR][1000 genomes];0.81[ASN][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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:94 , 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	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
5	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
8	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
9	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:62451400-62467000	Weak transcription	Placenta	Placenta
13	chr8:62451600-62473200	Weak transcription	Fetal Kidney	kidney
14	chr8:62452600-62469600	Strong transcription	HSMM	muscle
15	chr8:62453400-62466400	Weak transcription	Gastric	stomach
16	chr8:62453400-62480200	Weak transcription	Primary T cells from cord blood	blood
17	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:62454400-62468400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
21	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:62456200-62474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:62456400-62468800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:62456600-62466400	Weak transcription	Fetal Brain Female	brain
25	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
26	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
27	chr8:62456800-62467800	Weak transcription	Hela-S3	cervix
28	chr8:62456800-62479400	Weak transcription	Psoas Muscle	Psoas
29	chr8:62456800-62482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:62457000-62464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:62457000-62475400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:62457000-62479600	Weak transcription	NHEK	skin
33	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
35	chr8:62457400-62464000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:62458000-62471400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:62458200-62464800	Weak transcription	HMEC	breast
40	chr8:62458200-62482000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:62458400-62467600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:62458800-62463600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:62458800-62466200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:62458800-62468200	Weak transcription	HepG2	liver
45	chr8:62458800-62468800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:62459000-62463800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:62459000-62465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:62459000-62466600	Weak transcription	Ovary	ovary
50	chr8:62459000-62471800	Weak transcription	Fetal Intestine Large	intestine

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