Variant report

Variant	rs11987173
Chromosome Location	chr8:100843414-100843415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1135382	0.87[EUR][1000 genomes]
rs11781938	0.86[AFR][1000 genomes]
rs12542791	0.86[AFR][1000 genomes]
rs12545602	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12546882	0.95[EUR][1000 genomes]
rs12548344	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12548827	0.81[ASN][1000 genomes]
rs13260744	0.96[EUR][1000 genomes]
rs13264726	0.83[ASN][1000 genomes]
rs13265660	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13271488	0.93[EUR][1000 genomes]
rs13274441	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2305290	0.80[ASN][1000 genomes]
rs2442756	0.82[AFR][1000 genomes]
rs34513504	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34830464	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35031559	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35135010	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35615286	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35845479	0.85[AFR][1000 genomes]
rs4076509	0.81[ASN][1000 genomes]
rs4434590	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4510829	0.87[EUR][1000 genomes]
rs4626565	0.87[EUR][1000 genomes]
rs58393536	0.85[AFR][1000 genomes]
rs62534616	0.87[AFR][1000 genomes]
rs62534626	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6468694	0.80[ASN][1000 genomes]
rs6468695	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6468696	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6468697	0.86[ASN][1000 genomes]
rs7009713	0.95[EUR][1000 genomes]
rs7157	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7824037	0.96[EUR][1000 genomes]
rs7828241	0.86[EUR][1000 genomes]
rs7831963	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832488	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7840626	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7844439	0.87[EUR][1000 genomes]
rs7844563	0.81[AFR][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
rs11987173	VPS13B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
2	chr8:100783200-100858200	Weak transcription	Gastric	stomach
3	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:100807400-100847800	Weak transcription	Liver	Liver
8	chr8:100809400-100847600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:100811200-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:100816800-100858000	Weak transcription	HSMM	muscle
12	chr8:100816800-100858200	Weak transcription	HSMMtube	muscle
13	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
14	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
15	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:100820200-100844600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
20	chr8:100821000-100847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:100822200-100846200	Weak transcription	Aorta	Aorta
22	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:100822600-100857600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:100823200-100844600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:100823800-100849000	Weak transcription	Thymus	Thymus
26	chr8:100826000-100857400	Weak transcription	Dnd41	blood
27	chr8:100826000-100857800	Weak transcription	Osteobl	bone
28	chr8:100826200-100857600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:100826200-100858200	Weak transcription	NHDF-Ad	bronchial
30	chr8:100826400-100844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:100826400-100865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:100827000-100850800	Weak transcription	Fetal Intestine Large	intestine
33	chr8:100827000-100858400	Weak transcription	Placenta	Placenta
34	chr8:100830200-100846200	Weak transcription	Fetal Lung	lung
35	chr8:100830400-100855600	Weak transcription	Adipose Nuclei	Adipose
36	chr8:100830400-100858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:100830800-100847600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:100830800-100855200	Weak transcription	Ovary	ovary
40	chr8:100831800-100849000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:100832000-100857400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:100832800-100849000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:100833800-100865400	Weak transcription	NHLF	lung
45	chr8:100834200-100847800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:100834800-100852600	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:100835400-100869200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:100836600-100844600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:100836600-100844800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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