Variant report

Variant	rs1193519
Chromosome Location	chr3:158076463-158076464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1095625	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095631	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095632	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1103981	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915781	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435637	0.81[EUR][1000 genomes]
rs1520657	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520662	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520666	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625612	0.95[EUR][1000 genomes]
rs1656360	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1656362	0.96[EUR][1000 genomes]
rs1656367	0.96[EUR][1000 genomes]
rs1656371	0.96[EUR][1000 genomes]
rs1714508	0.96[EUR][1000 genomes]
rs1714510	0.96[EUR][1000 genomes]
rs1714512	0.91[EUR][1000 genomes]
rs1714513	0.88[EUR][1000 genomes]
rs1714517	0.96[EUR][1000 genomes]
rs1714526	0.96[EUR][1000 genomes]
rs1724650	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724725	1.00[ASN][1000 genomes]
rs1730038	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956471	0.91[EUR][1000 genomes]
rs6441191	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779266	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788695	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804180	1.00[ASN][1000 genomes]
rs698978	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170371	0.90[EUR][1000 genomes]
rs7622013	0.82[AFR][1000 genomes]
rs7651712	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827103	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827105	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827107	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827115	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827116	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827117	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827119	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827138	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827152	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827182	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827183	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827189	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824822	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1193519	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158047800-158077800	Weak transcription	Gastric	stomach
2	chr3:158048200-158079400	Weak transcription	Right Ventricle	heart
3	chr3:158055000-158077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:158055200-158086000	Weak transcription	Left Ventricle	heart
5	chr3:158057800-158079600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158068800-158077400	Weak transcription	Adipose Nuclei	Adipose
7	chr3:158070600-158077200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:158071000-158077400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:158071200-158077000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:158071200-158077200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:158071200-158077200	Weak transcription	Primary B cells from cord blood	blood
12	chr3:158071400-158077200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:158071400-158077400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:158071800-158077200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:158072200-158077200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:158073600-158077400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:158073600-158079400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:158074600-158077400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:158075400-158077200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:158075600-158077200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:158075600-158077200	Weak transcription	Ovary	ovary
22	chr3:158075600-158077600	Weak transcription	Primary T cells from cord blood	blood
23	chr3:158075800-158077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:158075800-158077400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:158075800-158078400	Weak transcription	Esophagus	oesophagus
26	chr3:158076000-158077800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:158076200-158078600	ZNF genes & repeats	Dnd41	blood
28	chr3:158076200-158087000	Weak transcription	Aorta	Aorta
29	chr3:158076400-158078600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:158076400-158079800	Weak transcription	Brain Hippocampus Middle	brain

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