Variant report

Variant	rs1523598
Chromosome Location	chr3:135686534-135686535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1014312	0.84[ASN][1000 genomes]
rs12630389	0.87[ASN][1000 genomes]
rs12633805	0.83[ASN][1000 genomes]
rs12637541	0.88[ASN][1000 genomes]
rs13059064	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13065499	0.83[ASN][1000 genomes]
rs13069408	0.83[ASN][1000 genomes]
rs13072433	0.83[ASN][1000 genomes]
rs13072690	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13072782	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13075579	0.81[ASN][1000 genomes]
rs13078865	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13079037	0.83[EUR][1000 genomes]
rs13084404	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092707	0.82[ASN][1000 genomes]
rs13095193	0.81[ASN][1000 genomes]
rs13097172	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097176	0.93[ASN][1000 genomes]
rs13097267	0.83[ASN][1000 genomes]
rs13100235	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1523593	0.82[ASN][1000 genomes]
rs1523599	0.88[ASN][1000 genomes]
rs1523600	0.83[ASN][1000 genomes]
rs16843560	0.87[ASN][1000 genomes]
rs16843611	0.82[ASN][1000 genomes]
rs2140450	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177407	0.83[ASN][1000 genomes]
rs2400649	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34447526	0.83[ASN][1000 genomes]
rs35097316	0.88[ASN][1000 genomes]
rs35532770	0.82[ASN][1000 genomes]
rs35946332	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3946444	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4075999	0.83[ASN][1000 genomes]
rs4331626	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4678224	0.80[ASN][1000 genomes]
rs4678288	0.83[ASN][1000 genomes]
rs4678432	0.81[ASN][1000 genomes]
rs4678434	0.82[ASN][1000 genomes]
rs4678435	0.82[ASN][1000 genomes]
rs55873361	0.83[ASN][1000 genomes]
rs56152207	0.83[ASN][1000 genomes]
rs57594457	0.83[ASN][1000 genomes]
rs60070757	0.83[ASN][1000 genomes]
rs61791712	0.83[ASN][1000 genomes]
rs61791714	0.83[ASN][1000 genomes]
rs6439603	0.87[ASN][1000 genomes]
rs6439605	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439610	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439614	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439615	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439618	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439622	0.85[ASN][1000 genomes]
rs6439623	0.85[ASN][1000 genomes]
rs6439624	0.83[ASN][1000 genomes]
rs6770366	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6771950	0.83[ASN][1000 genomes]
rs6775261	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779903	0.82[ASN][1000 genomes]
rs6803679	0.83[ASN][1000 genomes]
rs6803786	0.83[ASN][1000 genomes]
rs7433592	0.83[ASN][1000 genomes]
rs7610302	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625177	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625607	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7635621	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289501	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs940229	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9682712	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9758578	0.84[ASN][1000 genomes]
rs9846554	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9852009	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9852169	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9856799	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9868239	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135683800-135687200	Active TSS	Stomach Smooth Muscle	stomach
2	chr3:135684000-135686600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:135684000-135686600	Active TSS	Right Ventricle	heart
4	chr3:135684000-135687000	Active TSS	Right Atrium	heart
5	chr3:135684200-135686800	Active TSS	Aorta	Aorta
6	chr3:135685400-135692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:135685600-135686600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:135685600-135686600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr3:135685600-135686800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:135685600-135687000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:135685600-135687000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:135685600-135687200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:135685600-135693800	Weak transcription	Gastric	stomach
14	chr3:135685800-135686600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:135685800-135686600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:135685800-135686800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:135685800-135686800	Enhancers	Placenta	Placenta
18	chr3:135685800-135686800	Weak transcription	Left Ventricle	heart
19	chr3:135685800-135687000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:135685800-135687000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:135685800-135687000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:135685800-135687000	Enhancers	Fetal Intestine Large	intestine
23	chr3:135685800-135687000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:135685800-135687400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:135685800-135687400	Enhancers	Brain Angular Gyrus	brain
26	chr3:135685800-135687600	Enhancers	Stomach Mucosa	stomach
27	chr3:135685800-135688400	Weak transcription	Small Intestine	intestine
28	chr3:135685800-135693800	Weak transcription	Lung	lung
29	chr3:135686000-135686600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:135686000-135686600	Active TSS	Fetal Stomach	stomach
31	chr3:135686000-135686800	Weak transcription	Colonic Mucosa	Colon
32	chr3:135686000-135686800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:135686000-135686800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr3:135686000-135686800	Flanking Active TSS	NH-A	brain
35	chr3:135686000-135687000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:135686000-135687000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:135686000-135687000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:135686000-135687400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:135686000-135687600	Enhancers	Brain Hippocampus Middle	brain
40	chr3:135686000-135687600	Enhancers	Fetal Intestine Small	intestine
41	chr3:135686000-135687600	Enhancers	Ovary	ovary
42	chr3:135686000-135689000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:135686200-135686600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr3:135686200-135686600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:135686200-135686600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr3:135686200-135686600	Flanking Active TSS	NHEK	skin
47	chr3:135686200-135686800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:135686200-135686800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:135686200-135686800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr3:135686200-135686800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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