Variant report

Variant	rs7835882
Chromosome Location	chr8:86188491-86188492
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10090196	0.84[ASN][1000 genomes]
rs1014303	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11261472	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11989660	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12114575	0.83[ASN][1000 genomes]
rs1303806	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1303807	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13259399	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1390711	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1553015	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16913721	0.94[ASN][1000 genomes]
rs1995056	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278459	0.80[ASN][1000 genomes]
rs2403104	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28677919	0.84[ASN][1000 genomes]
rs3808538	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4150942	0.80[ASN][1000 genomes]
rs4739700	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4739702	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4740044	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4740048	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4740049	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62527225	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67573812	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6987641	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6990449	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6990452	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6993387	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004871	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7011926	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7818163	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833737	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835303	0.83[ASN][1000 genomes]
rs7837275	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs903895	0.81[ASN][1000 genomes]
rs903896	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs903897	0.83[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	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7835882	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs7835882	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
2	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:86168000-86196200	Weak transcription	NHEK	skin
5	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:86170800-86204400	Weak transcription	Ovary	ovary
8	chr8:86172200-86191400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
10	chr8:86175800-86191200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:86175800-86191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:86176400-86195000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:86177600-86191200	Weak transcription	Right Ventricle	heart
14	chr8:86178000-86198200	Weak transcription	Aorta	Aorta
15	chr8:86178200-86193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:86179000-86191200	Weak transcription	Stomach Mucosa	stomach
17	chr8:86181200-86191400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:86181600-86190800	Weak transcription	Small Intestine	intestine
19	chr8:86181600-86191400	Weak transcription	Fetal Lung	lung
20	chr8:86182200-86189200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:86182400-86189200	Weak transcription	Liver	Liver
22	chr8:86182600-86196000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:86183000-86190000	Weak transcription	Colonic Mucosa	Colon
24	chr8:86183800-86190200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:86183800-86190800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:86184000-86190400	Strong transcription	Fetal Intestine Small	intestine
27	chr8:86184200-86190200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:86184400-86191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:86185400-86190000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:86185600-86190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:86185600-86190200	Weak transcription	HepG2	liver
32	chr8:86186200-86191400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:86186400-86190800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:86186400-86191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:86186600-86198800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:86186800-86188800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:86187200-86189800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:86187400-86188600	Weak transcription	Fetal Stomach	stomach
39	chr8:86187400-86190000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:86187800-86189400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:86187800-86190400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:86187800-86195400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:86188000-86188800	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr8:86188000-86189400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:86188200-86188800	Strong transcription	Esophagus	oesophagus
46	chr8:86188200-86190000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:86188200-86190000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:86188200-86190200	Strong transcription	Gastric	stomach
49	chr8:86188200-86190200	Strong transcription	Lung	lung

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