Variant report

Variant	rs13100235
Chromosome Location	chr3:135691004-135691005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12632791	0.80[ASN][1000 genomes]
rs12633805	0.84[ASN][1000 genomes]
rs13059064	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13065499	0.84[ASN][1000 genomes]
rs13069408	0.84[ASN][1000 genomes]
rs13072433	0.84[ASN][1000 genomes]
rs13072690	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13072782	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13075579	0.84[ASN][1000 genomes]
rs13078865	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13079037	0.82[EUR][1000 genomes]
rs13084404	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13092707	0.83[ASN][1000 genomes]
rs13097172	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13097176	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13097267	0.84[ASN][1000 genomes]
rs1523593	0.83[ASN][1000 genomes]
rs1523598	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1523600	0.84[ASN][1000 genomes]
rs16843611	0.84[ASN][1000 genomes]
rs2140450	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177407	0.84[ASN][1000 genomes]
rs2400649	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34447526	0.84[ASN][1000 genomes]
rs35532770	0.83[ASN][1000 genomes]
rs35946332	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35961065	0.80[ASN][1000 genomes]
rs3946444	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4075999	0.84[ASN][1000 genomes]
rs4331626	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4678224	0.81[ASN][1000 genomes]
rs4678288	0.84[ASN][1000 genomes]
rs4678432	0.84[ASN][1000 genomes]
rs4678434	0.83[ASN][1000 genomes]
rs4678435	0.83[ASN][1000 genomes]
rs55873361	0.84[ASN][1000 genomes]
rs56152207	0.84[ASN][1000 genomes]
rs57594457	0.84[ASN][1000 genomes]
rs60070757	0.84[ASN][1000 genomes]
rs61791712	0.84[ASN][1000 genomes]
rs61791714	0.84[ASN][1000 genomes]
rs6439605	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439609	0.80[ASN][1000 genomes]
rs6439610	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6439614	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439615	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439618	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439622	0.85[ASN][1000 genomes]
rs6439623	0.85[ASN][1000 genomes]
rs6439624	0.84[ASN][1000 genomes]
rs6770366	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6771950	0.84[ASN][1000 genomes]
rs6775261	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779903	0.83[ASN][1000 genomes]
rs6803786	0.84[ASN][1000 genomes]
rs7433592	0.84[ASN][1000 genomes]
rs7610302	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625177	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625607	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7635621	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7650079	0.82[ASN][1000 genomes]
rs9289501	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs940229	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9682712	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9758578	0.84[ASN][1000 genomes]
rs9846554	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9852009	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9852169	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9856799	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9868239	0.83[AMR][1000 genomes];0.95[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135685400-135692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:135685600-135693800	Weak transcription	Gastric	stomach
3	chr3:135685800-135693800	Weak transcription	Lung	lung
4	chr3:135686600-135693400	Weak transcription	Right Ventricle	heart
5	chr3:135686600-135694400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:135686800-135692600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:135687000-135691200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:135687000-135691800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:135687000-135692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:135687000-135692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:135687000-135692800	Weak transcription	Right Atrium	heart
12	chr3:135687000-135693200	Weak transcription	Fetal Lung	lung
13	chr3:135687000-135693200	Weak transcription	Fetal Stomach	stomach
14	chr3:135687200-135691400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:135687200-135691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:135687200-135692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:135687400-135692800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:135687400-135692800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:135687400-135692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:135687400-135693400	Weak transcription	Left Ventricle	heart
21	chr3:135687600-135691200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:135687600-135691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:135687600-135691800	Weak transcription	Stomach Mucosa	stomach
24	chr3:135687600-135694000	Enhancers	Colon Smooth Muscle	Colon
25	chr3:135687600-135700400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:135687800-135692600	Weak transcription	Fetal Heart	heart
27	chr3:135688000-135694200	Enhancers	Brain Hippocampus Middle	brain
28	chr3:135688400-135692800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:135688800-135691200	Enhancers	Brain Anterior Caudate	brain
30	chr3:135688800-135694200	Enhancers	Brain Substantia Nigra	brain
31	chr3:135689400-135695200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:135689800-135691200	Enhancers	Brain Angular Gyrus	brain
33	chr3:135689800-135692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:135689800-135692400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:135689800-135692800	Weak transcription	NH-A	brain
36	chr3:135690000-135692200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:135690000-135692600	Weak transcription	NHLF	lung
38	chr3:135690000-135692800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:135690000-135692800	Weak transcription	Aorta	Aorta
40	chr3:135690200-135692600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:135690200-135694200	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:135690200-135701200	Weak transcription	NHEK	skin
43	chr3:135690200-135701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:135690400-135692000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:135690400-135692600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:135690400-135692800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:135690400-135694000	Weak transcription	HMEC	breast
48	chr3:135690400-135700800	Weak transcription	HSMM	muscle
49	chr3:135690600-135691200	Enhancers	Ovary	ovary
50	chr3:135690600-135692200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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