Variant report

Variant	rs8113638
Chromosome Location	chr19:36860222-36860223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10418925	0.80[ASN][1000 genomes]
rs11084855	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11084857	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1127406	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1129375	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1129376	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11882601	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17206365	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17639740	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918350	0.82[ASN][1000 genomes]
rs2918352	0.81[EUR][1000 genomes]
rs2918353	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918354	0.80[ASN][1000 genomes]
rs2918362	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918363	0.81[ASN][1000 genomes]
rs2918366	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2918367	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2918371	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918374	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967486	0.81[ASN][1000 genomes]
rs2967487	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2967488	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967490	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967491	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967492	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967494	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967495	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967498	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967499	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967502	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972630	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2972634	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972635	0.83[ASN][1000 genomes]
rs2972636	0.83[ASN][1000 genomes]
rs2972637	0.80[AMR][1000 genomes]
rs2972638	0.81[ASN][1000 genomes]
rs2972643	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972650	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972654	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972655	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34723481	0.80[ASN][1000 genomes]
rs35822095	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57488812	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58192477	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58333554	0.80[EUR][1000 genomes]
rs60499535	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60842204	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62112620	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62112621	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62112627	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62112629	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62112634	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73043854	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7343105	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8111845	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2474	chr19:36804469-36865415	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv174	chr19:36831719-36865415	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8113638	LOC284412	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
7	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
9	chr19:36842400-36861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:36844200-36868800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:36846600-36866400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:36847400-36862200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr19:36848400-36861000	Weak transcription	NH-A	brain
14	chr19:36848800-36862000	Weak transcription	Hela-S3	cervix
15	chr19:36850000-36868000	Weak transcription	Fetal Heart	heart
16	chr19:36850800-36862000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:36851800-36863600	Weak transcription	Fetal Kidney	kidney
18	chr19:36852200-36867600	Weak transcription	HepG2	liver
19	chr19:36854400-36862000	ZNF genes & repeats	Liver	Liver
20	chr19:36854400-36862600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:36854800-36861200	Strong transcription	Brain Germinal Matrix	brain
22	chr19:36855000-36861600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr19:36855000-36862200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:36855200-36860400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:36855400-36860600	Weak transcription	HSMM	muscle
26	chr19:36855600-36860800	Weak transcription	Colonic Mucosa	Colon
27	chr19:36855600-36861200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:36856600-36868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:36857600-36861200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:36857600-36861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:36857600-36865400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:36858000-36861400	Weak transcription	Fetal Lung	lung
33	chr19:36858000-36868600	Weak transcription	Brain Substantia Nigra	brain
34	chr19:36858000-36869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:36858200-36861800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr19:36858400-36861000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:36858400-36861400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:36858400-36861600	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:36858400-36861600	Weak transcription	Fetal Brain Male	brain
40	chr19:36858400-36863400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:36858400-36868200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr19:36858400-36868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:36858400-36869400	Weak transcription	Left Ventricle	heart
44	chr19:36858600-36861000	Weak transcription	Spleen	Spleen
45	chr19:36858600-36861200	Weak transcription	Gastric	stomach
46	chr19:36858600-36861400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:36858600-36861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:36858600-36868600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:36858600-36868600	Weak transcription	Brain Anterior Caudate	brain
50	chr19:36858600-36869200	Weak transcription	Pancreas	Pancrea

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