Variant report

Variant	rs73170331
Chromosome Location	chr3:158076742-158076743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10470472	0.84[ASN][1000 genomes]
rs10936131	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10936132	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11712563	0.87[ASN][1000 genomes]
rs11716969	0.81[EUR][1000 genomes]
rs11717923	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719153	0.85[ASN][1000 genomes]
rs1193511	0.86[ASN][1000 genomes]
rs1193513	0.86[ASN][1000 genomes]
rs12053861	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12053865	0.82[EUR][1000 genomes]
rs12053869	0.82[EUR][1000 genomes]
rs12634807	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12634832	0.82[ASN][1000 genomes]
rs12636733	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12637649	0.81[EUR][1000 genomes]
rs12639261	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12639310	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1730008	0.86[ASN][1000 genomes]
rs1730039	0.86[ASN][1000 genomes]
rs1730041	0.86[ASN][1000 genomes]
rs17627933	0.80[EUR][1000 genomes]
rs17683939	0.87[ASN][1000 genomes]
rs1918000	0.85[ASN][1000 genomes]
rs34434866	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4680425	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4680428	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4680432	0.82[EUR][1000 genomes]
rs56123505	0.82[EUR][1000 genomes]
rs58195752	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58925169	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6441193	0.82[EUR][1000 genomes]
rs6767494	0.81[EUR][1000 genomes]
rs6772246	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6784968	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6800853	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6807468	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73168723	0.87[ASN][1000 genomes]
rs73168799	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73170303	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73170306	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73170310	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73170326	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73170337	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73170339	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73170346	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73170364	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73170373	0.82[EUR][1000 genomes]
rs73170375	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7640075	0.82[EUR][1000 genomes]
rs7641036	0.82[EUR][1000 genomes]
rs7652970	0.81[EUR][1000 genomes]
rs827130	0.84[ASN][1000 genomes]
rs827162	0.84[ASN][1000 genomes]
rs827168	0.84[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73170331	RP11-538P18.2	cis	Nerve Tibial	GTEx
rs73170331	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs73170331	RP11-538P18.2	cis	lung	GTEx
rs73170331	RP11-538P18.2	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 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
31	chr3:158076600-158077200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:158076600-158078800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:158076600-158079000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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