Variant report

Variant	rs2619347
Chromosome Location	chr4:90745770-90745771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10005233	0.99[ASN][1000 genomes]
rs10008964	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028246	0.87[ASN][1000 genomes]
rs1348224	0.89[ASN][1000 genomes]
rs1372517	0.84[ASN][1000 genomes]
rs1372518	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1372519	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1372520	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1372521	0.87[ASN][1000 genomes]
rs1372522	0.83[ASN][1000 genomes]
rs1442144	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1442148	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471483	0.84[ASN][1000 genomes]
rs1471484	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1811442	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1811443	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1822217	0.87[ASN][1000 genomes]
rs1837891	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs184810	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197120	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245801	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2301134	0.91[ASN][1000 genomes]
rs2301135	0.93[ASN][1000 genomes]
rs2572318	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2572320	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583962	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583964	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583975	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583978	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2619341	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619355	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619356	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2619368	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2737002	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2737010	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2737011	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2737021	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2737025	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2737028	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2737030	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28415623	0.85[ASN][1000 genomes]
rs28507349	0.87[ASN][1000 genomes]
rs3113355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356162	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs356186	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356188	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs356191	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356196	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs356197	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs356198	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3756059	0.84[ASN][1000 genomes]
rs3756063	0.84[ASN][1000 genomes]
rs3806789	0.86[ASN][1000 genomes]
rs4293762	0.99[ASN][1000 genomes]
rs58864428	0.87[ASN][1000 genomes]
rs6532191	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6532192	0.89[ASN][1000 genomes]
rs6532193	0.89[ASN][1000 genomes]
rs6816736	0.87[ASN][1000 genomes]
rs6817001	0.87[ASN][1000 genomes]
rs6828271	0.86[ASN][1000 genomes]
rs6843084	0.87[ASN][1000 genomes]
rs748849	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7680557	0.89[ASN][1000 genomes]
rs7680761	0.89[ASN][1000 genomes]
rs7681154	0.86[ASN][1000 genomes]
rs7681440	0.84[ASN][1000 genomes]
rs7687945	0.89[ASN][1000 genomes]
rs894280	0.89[ASN][1000 genomes]
rs920624	0.99[ASN][1000 genomes]
rs990085	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90718800-90748000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:90719000-90747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:90722200-90751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:90730200-90757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:90730800-90757000	Weak transcription	Fetal Stomach	stomach
6	chr4:90734800-90750600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:90735400-90749600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:90735800-90755600	Weak transcription	Fetal Brain Male	brain
9	chr4:90736200-90750600	Weak transcription	Fetal Thymus	thymus
10	chr4:90738000-90750800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:90738000-90755800	Weak transcription	Fetal Brain Female	brain
12	chr4:90738200-90750400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:90738200-90750800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:90738400-90750400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:90738400-90750600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:90738400-90756600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:90739600-90750600	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:90740000-90750600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:90740600-90750400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:90742000-90750600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:90742800-90750200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:90742800-90750400	Weak transcription	HMEC	breast
23	chr4:90742800-90752200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:90743200-90750200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:90743400-90753400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:90743400-90756600	Weak transcription	NHEK	skin
27	chr4:90743400-90757400	Weak transcription	Gastric	stomach
28	chr4:90743600-90750400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:90743600-90754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:90743800-90747000	Weak transcription	HUVEC	blood vessel
31	chr4:90743800-90747200	Weak transcription	Dnd41	blood
32	chr4:90743800-90750400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:90743800-90756600	Weak transcription	Ovary	ovary
34	chr4:90744000-90750200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:90744000-90750600	Weak transcription	Fetal Lung	lung
36	chr4:90744200-90747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:90744400-90750200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:90744400-90750200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:90745000-90747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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