Variant report

Variant	rs13110171
Chromosome Location	chr4:534373-534374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10003485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10006279	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10014602	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10014828	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10015083	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10022506	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10026805	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027093	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027174	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10213007	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10213020	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11248023	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1127410	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11730410	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931500	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931543	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11931692	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11933478	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11934533	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11934538	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11934549	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935642	0.81[EUR][1000 genomes]
rs11936515	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11936548	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11936717	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11936752	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11938183	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11938226	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11940796	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11940914	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11944995	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11946204	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13105387	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13105652	0.81[EUR][1000 genomes]
rs13106068	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13111014	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13115802	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13119658	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13137203	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13141560	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13146968	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13149933	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28380061	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28407137	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28458903	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28465192	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28465521	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28473153	0.85[ASN][1000 genomes]
rs28491533	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28535797	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28549216	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28624264	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28652818	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28673088	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28684815	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28715137	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3211083	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34247702	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34327839	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34584074	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34623004	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35122538	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35479345	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35629431	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36043622	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4324509	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324510	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4356866	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4488886	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55983970	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56121355	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57612025	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59231873	0.94[ASN][1000 genomes]
rs59564702	0.97[ASN][1000 genomes]
rs61334630	0.97[ASN][1000 genomes]
rs6816690	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6817963	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6817973	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6822767	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6827438	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833031	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6837492	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6847050	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6847066	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6852371	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855585	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72501954	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73072173	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73072175	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73072198	0.93[ASN][1000 genomes]
rs73792305	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73792306	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73794942	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7441980	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7668455	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9884673	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9884677	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9884771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9884772	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9884826	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:494400-534600	Weak transcription	Fetal Heart	heart
2	chr4:510000-535400	Weak transcription	Hela-S3	cervix
3	chr4:522800-535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:526200-534400	Weak transcription	HepG2	liver
5	chr4:526400-535000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:527800-534800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:528400-535000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:529000-535000	Weak transcription	Fetal Lung	lung
9	chr4:529800-542400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:530200-534400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:530800-534400	Weak transcription	HMEC	breast
12	chr4:530800-534600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:530800-534800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:530800-535200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:530800-536000	Weak transcription	NHEK	skin
16	chr4:531400-534400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:531600-535000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:531600-535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:531800-534400	Weak transcription	Thymus	Thymus
20	chr4:531800-534800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:531800-542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:532000-534600	Weak transcription	Dnd41	blood
23	chr4:532000-535000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:532000-535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:532000-535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:532000-535800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:532000-536200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:532000-537000	Weak transcription	Primary T cells from cord blood	blood
29	chr4:532200-534400	Weak transcription	Pancreas	Pancrea
30	chr4:532200-534600	Weak transcription	Primary B cells from cord blood	blood
31	chr4:532200-534800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:532200-534800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:532200-534800	Weak transcription	NH-A	brain
34	chr4:532200-535000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:532200-542600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:532200-549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:532400-534600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:532600-534400	Weak transcription	Colonic Mucosa	Colon
39	chr4:532600-534800	Weak transcription	Brain Germinal Matrix	brain
40	chr4:532600-536800	Weak transcription	Ovary	ovary
41	chr4:532600-537000	Weak transcription	Aorta	Aorta
42	chr4:532800-534400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:532800-534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:532800-534800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:532800-535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:532800-536000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:532800-537000	Weak transcription	Fetal Intestine Small	intestine
48	chr4:533000-534600	Weak transcription	Gastric	stomach
49	chr4:533000-534800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:533000-535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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