Variant report

Variant	rs28403155
Chromosome Location	chr19:42956531-42956532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10401178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10402853	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10405037	0.90[AMR][1000 genomes]
rs10405152	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10405179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412173	0.90[AMR][1000 genomes]
rs10412594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415284	0.90[AMR][1000 genomes]
rs10418090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418997	0.80[AFR][1000 genomes]
rs10419543	0.90[AMR][1000 genomes]
rs10420773	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10422191	0.80[AFR][1000 genomes]
rs10423227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423370	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10425199	0.90[AMR][1000 genomes]
rs10425666	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426304	0.90[AMR][1000 genomes]
rs11880554	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11880876	0.90[AMR][1000 genomes]
rs11881583	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882701	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13343840	0.80[AFR][1000 genomes]
rs13346522	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16975787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975799	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16975815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975862	0.80[AFR][1000 genomes]
rs28433890	1.00[AMR][1000 genomes]
rs28602626	0.95[AMR][1000 genomes]
rs28625452	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28635141	0.95[AMR][1000 genomes]
rs28660279	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs41348545	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41381546	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41421250	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs57018456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162305	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58702905	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60747186	0.85[AMR][1000 genomes]
rs61388144	0.95[AMR][1000 genomes]
rs6509015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247278	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7249304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250501	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7252874	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7253634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256850	0.95[AMR][1000 genomes]
rs7259335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558492	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73558498	0.90[AMR][1000 genomes]
rs73560408	0.95[AMR][1000 genomes]
rs8101378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104731	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8105525	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8106836	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8107720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108992	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8109086	0.87[AFR][1000 genomes]
rs8110904	0.89[AMR][1000 genomes]
rs8110922	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111171	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8111468	0.84[AMR][1000 genomes]
rs8112593	0.90[AMR][1000 genomes]
rs8112915	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8113154	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8113448	0.90[AMR][1000 genomes]
rs9749434	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9916999	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917002	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42948200-42956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:42952000-42957600	Enhancers	HepG2	liver
3	chr19:42952400-42964400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:42953400-42956600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:42953400-42957200	Enhancers	Duodenum Mucosa	Duodenum
6	chr19:42953600-42957800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr19:42954000-42957200	Weak transcription	Lung	lung
8	chr19:42954200-42957800	Enhancers	Primary hematopoietic stem cells	blood
9	chr19:42954200-42959000	Weak transcription	Small Intestine	intestine
10	chr19:42954400-42957600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:42954400-42957800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:42954400-42961000	Enhancers	Primary B cells from cord blood	blood
13	chr19:42954600-42960000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:42954600-42961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:42954800-42956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:42954800-42956600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:42954800-42956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:42954800-42959200	Weak transcription	HMEC	breast
19	chr19:42955000-42956800	Enhancers	Colonic Mucosa	Colon
20	chr19:42955200-42956600	Weak transcription	Left Ventricle	heart
21	chr19:42955200-42959200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:42955200-42959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:42955400-42956600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:42955400-42956800	Weak transcription	Adipose Nuclei	Adipose
25	chr19:42955400-42957000	Weak transcription	Fetal Intestine Small	intestine
26	chr19:42955400-42964000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:42955400-42964600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:42955600-42956600	Weak transcription	Fetal Intestine Large	intestine
29	chr19:42955600-42959000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:42955600-42959400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:42955800-42957000	Enhancers	Primary B cells from peripheral blood	blood
32	chr19:42955800-42959200	Weak transcription	Stomach Mucosa	stomach
33	chr19:42955800-42966400	Weak transcription	GM12878-XiMat	blood
34	chr19:42956000-42957400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:42956200-42957000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr19:42956200-42957000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:42956200-42957200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr19:42956200-42957400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr19:42956400-42956800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr19:42956400-42957600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:42956400-42957800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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