Variant report

Variant	rs28602626
Chromosome Location	chr19:43057233-43057234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10401178	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401428	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10402853	0.95[AMR][1000 genomes]
rs10403065	1.00[EUR][1000 genomes]
rs10404589	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405037	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405179	0.95[AMR][1000 genomes]
rs10405410	1.00[EUR][1000 genomes]
rs10405942	1.00[EUR][1000 genomes]
rs10406227	0.95[AMR][1000 genomes]
rs10408822	0.95[AMR][1000 genomes]
rs10412074	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412173	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10412594	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414396	0.95[AMR][1000 genomes]
rs10415284	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	1.00[EUR][1000 genomes]
rs10418090	0.95[AMR][1000 genomes]
rs10418997	1.00[EUR][1000 genomes]
rs10419543	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419561	1.00[EUR][1000 genomes]
rs10420773	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422191	1.00[EUR][1000 genomes]
rs10423227	0.95[AMR][1000 genomes]
rs10423370	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424206	1.00[EUR][1000 genomes]
rs10425199	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425666	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426304	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879033	0.84[AFR][1000 genomes]
rs11880554	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880876	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882225	1.00[EUR][1000 genomes]
rs11882291	0.95[AMR][1000 genomes]
rs13343840	1.00[EUR][1000 genomes]
rs13345272	1.00[EUR][1000 genomes]
rs13346522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975787	0.95[AMR][1000 genomes]
rs16975815	0.95[AMR][1000 genomes]
rs16975862	1.00[EUR][1000 genomes]
rs2051832	1.00[EUR][1000 genomes]
rs2051833	0.83[EUR][1000 genomes]
rs28403155	0.95[AMR][1000 genomes]
rs28425201	1.00[EUR][1000 genomes]
rs28433890	0.95[AMR][1000 genomes]
rs28473486	1.00[EUR][1000 genomes]
rs28588100	1.00[EUR][1000 genomes]
rs28635141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660279	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41348545	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381546	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41421250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57018456	0.95[AMR][1000 genomes]
rs58050143	0.95[AMR][1000 genomes]
rs58162305	0.90[AMR][1000 genomes]
rs58702905	0.89[AMR][1000 genomes]
rs60747186	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61388144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509019	1.00[EUR][1000 genomes]
rs7247278	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248907	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7249304	0.95[AMR][1000 genomes]
rs7250501	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253634	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255271	1.00[EUR][1000 genomes]
rs7256226	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7256850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259335	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558492	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558498	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101378	0.95[AMR][1000 genomes]
rs8105525	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106836	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107720	0.95[AMR][1000 genomes]
rs8108992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110904	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110922	0.95[AMR][1000 genomes]
rs8111171	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111468	0.89[AMR][1000 genomes]
rs8112593	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112915	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113154	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113448	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749434	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916999	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43056200-43058000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:43056200-43059200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:43056200-43060200	Enhancers	Spleen	Spleen
5	chr19:43056400-43059600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:43056600-43058400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:43056600-43060800	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:43056800-43057600	Flanking Active TSS	HepG2	liver
9	chr19:43056800-43058000	Enhancers	Left Ventricle	heart
10	chr19:43056800-43060200	Enhancers	Adipose Nuclei	Adipose
11	chr19:43056800-43060200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:43057000-43057600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:43057000-43057800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:43057000-43057800	Enhancers	Placenta	Placenta
15	chr19:43057000-43057800	Weak transcription	Right Ventricle	heart
16	chr19:43057000-43058000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr19:43057000-43058200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:43057000-43058600	Enhancers	Primary B cells from cord blood	blood
19	chr19:43057000-43058800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:43057000-43058800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:43057000-43060200	Enhancers	Fetal Muscle Leg	muscle
22	chr19:43057200-43057400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:43057200-43057600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr19:43057200-43057600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr19:43057200-43057600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:43057200-43057800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr19:43057200-43058400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr19:43057200-43060600	Enhancers	Primary B cells from peripheral blood	blood

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