Variant report

Variant	rs8180034
Chromosome Location	chr3:50518935-50518936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11130250	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12490042	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12492113	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087550	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13099869	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2027854	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236950	0.86[AMR][1000 genomes]
rs2236953	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2236955	0.80[AMR][1000 genomes]
rs2236956	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236958	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236961	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236962	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236963	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236967	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236968	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236971	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236975	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236981	0.80[EUR][1000 genomes]
rs2236983	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236984	0.85[EUR][1000 genomes]
rs2236987	0.83[EUR][1000 genomes]
rs2236988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282756	0.97[AMR][1000 genomes]
rs2282758	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2282760	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2282762	0.85[EUR][1000 genomes]
rs2298955	0.80[AMR][1000 genomes]
rs35053615	0.80[EUR][1000 genomes]
rs35198275	0.80[EUR][1000 genomes]
rs35335661	0.80[EUR][1000 genomes]
rs35684775	0.80[EUR][1000 genomes]
rs35829757	0.80[EUR][1000 genomes]
rs35986136	0.80[EUR][1000 genomes]
rs36059704	0.80[EUR][1000 genomes]
rs4688719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688720	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58432784	0.80[EUR][1000 genomes]
rs6787890	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788459	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71326932	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71326934	0.80[EUR][1000 genomes]
rs73835511	0.80[EUR][1000 genomes]
rs743857	0.85[EUR][1000 genomes]
rs7613931	0.80[EUR][1000 genomes]
rs762895	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs762897	0.86[AMR][1000 genomes]
rs762898	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs916217	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs929047	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50492600-50528400	Weak transcription	Gastric	stomach
2	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:50512000-50523000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:50512600-50524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:50513000-50527400	Weak transcription	Right Atrium	heart
6	chr3:50515600-50519000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:50517000-50520200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:50517200-50520200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50518000-50519800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:50518000-50520400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:50518000-50520400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:50518000-50520800	Enhancers	Fetal Muscle Leg	muscle
13	chr3:50518000-50521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:50518000-50522000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:50518400-50519200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:50518400-50519400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr3:50518400-50519400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:50518400-50520000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:50518400-50520200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:50518400-50520200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr3:50518400-50520200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:50518400-50520200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:50518400-50520200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:50518400-50521000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:50518600-50519000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:50518600-50519000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:50518600-50519000	Enhancers	Brain Germinal Matrix	brain
28	chr3:50518600-50519000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr3:50518600-50519000	Enhancers	Fetal Intestine Small	intestine
30	chr3:50518600-50519000	Enhancers	Placenta	Placenta
31	chr3:50518600-50519000	Enhancers	Fetal Thymus	thymus
32	chr3:50518600-50519200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:50518600-50519200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:50518600-50520000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:50518600-50520200	Enhancers	Primary T cells from cord blood	blood
36	chr3:50518600-50520200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:50518600-50520400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:50518600-50520400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:50518600-50522000	Enhancers	Lung	lung
40	chr3:50518600-50523600	Enhancers	Fetal Muscle Trunk	muscle
41	chr3:50518800-50519000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:50518800-50519000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:50518800-50519200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:50518800-50519200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:50518800-50520000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:50518800-50520000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:50518800-50520000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:50518800-50520000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr3:50518800-50521800	Weak transcription	H9 Cell Line	embryonic stem cell

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