Variant report

Variant	rs7844563
Chromosome Location	chr8:100840834-100840835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11781938	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11987173	0.81[AFR][1000 genomes]
rs12542791	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13266358	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13268998	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449787	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2442756	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514676	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2514677	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35845479	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36111985	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58393536	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62534616	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844422	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs959695	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7844563	VPS13B	cis	Thyroid	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
2	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
3	chr8:100783200-100858200	Weak transcription	Gastric	stomach
4	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:100789600-100842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:100807400-100847800	Weak transcription	Liver	Liver
10	chr8:100809400-100847600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:100811200-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:100816800-100843000	Weak transcription	Esophagus	oesophagus
14	chr8:100816800-100858000	Weak transcription	HSMM	muscle
15	chr8:100816800-100858200	Weak transcription	HSMMtube	muscle
16	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
17	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
18	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:100819400-100842200	Weak transcription	Fetal Kidney	kidney
22	chr8:100819800-100842400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:100820200-100844600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
25	chr8:100821000-100847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:100822200-100846200	Weak transcription	Aorta	Aorta
27	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:100822600-100857600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:100823200-100844600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:100823800-100849000	Weak transcription	Thymus	Thymus
31	chr8:100826000-100857400	Weak transcription	Dnd41	blood
32	chr8:100826000-100857800	Weak transcription	Osteobl	bone
33	chr8:100826200-100857600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:100826200-100858200	Weak transcription	NHDF-Ad	bronchial
35	chr8:100826400-100844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:100826400-100865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:100826800-100843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:100827000-100850800	Weak transcription	Fetal Intestine Large	intestine
39	chr8:100827000-100858400	Weak transcription	Placenta	Placenta
40	chr8:100827800-100842200	Weak transcription	Fetal Intestine Small	intestine
41	chr8:100829000-100842000	Weak transcription	Fetal Stomach	stomach
42	chr8:100830200-100846200	Weak transcription	Fetal Lung	lung
43	chr8:100830400-100855600	Weak transcription	Adipose Nuclei	Adipose
44	chr8:100830400-100858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:100830600-100842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:100830800-100847600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:100830800-100855200	Weak transcription	Ovary	ovary
49	chr8:100831800-100842200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:100831800-100849000	Weak transcription	Primary T cells fromperipheralblood	blood

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