Variant report

Variant	rs6992793
Chromosome Location	chr8:62448943-62448944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10097248	1.00[EUR][1000 genomes]
rs11997276	1.00[EUR][1000 genomes]
rs12115001	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16927427	1.00[EUR][1000 genomes]
rs16927431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16927456	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28415536	1.00[EUR][1000 genomes]
rs56984248	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61052776	0.89[ASN][1000 genomes]
rs7009106	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7816683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821818	0.83[AMR][1000 genomes]
rs9693981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:80 , 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	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
5	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
6	chr8:62417000-62454000	Weak transcription	NHEK	skin
7	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
8	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
9	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
11	chr8:62425800-62452600	Weak transcription	Primary T cells from cord blood	blood
12	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
13	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:62428600-62451600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:62429000-62452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
19	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
20	chr8:62430400-62449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:62430400-62449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:62430400-62449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
24	chr8:62430600-62454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:62431600-62452800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:62431600-62455600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:62431600-62455600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:62431600-62456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:62432400-62455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:62433600-62449600	Weak transcription	Lung	lung
32	chr8:62433800-62449600	Weak transcription	Fetal Stomach	stomach
33	chr8:62434200-62452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
35	chr8:62434400-62455600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:62434600-62449000	Weak transcription	Aorta	Aorta
37	chr8:62434600-62452200	Weak transcription	Gastric	stomach
38	chr8:62434600-62452400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:62435800-62449400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:62436800-62449000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:62438400-62458200	Weak transcription	HepG2	liver
42	chr8:62439400-62455000	Weak transcription	Fetal Intestine Large	intestine
43	chr8:62439600-62452400	Weak transcription	Ovary	ovary
44	chr8:62440400-62452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:62440600-62449400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:62440600-62462800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:62440800-62452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:62440800-62455200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:62440800-62457400	Weak transcription	NHLF	lung
50	chr8:62440800-62457600	Weak transcription	Esophagus	oesophagus

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