Variant report

Variant	rs56209605
Chromosome Location	chr19:35743194-35743195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10407740	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10411872	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10412357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416254	0.94[EUR][1000 genomes]
rs10418562	0.94[EUR][1000 genomes]
rs10421791	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422195	0.94[EUR][1000 genomes]
rs10424110	0.94[EUR][1000 genomes]
rs11084809	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11669258	0.94[EUR][1000 genomes]
rs12609790	0.95[EUR][1000 genomes]
rs2188327	0.95[EUR][1000 genomes]
rs2280746	0.90[ASN][1000 genomes]
rs2861485	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2861487	0.95[EUR][1000 genomes]
rs2861488	0.95[EUR][1000 genomes]
rs34926220	0.95[EUR][1000 genomes]
rs4805118	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4806117	0.95[EUR][1000 genomes]
rs4806119	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4806122	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4806123	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55863037	0.88[ASN][1000 genomes]
rs6510474	0.95[EUR][1000 genomes]
rs66868858	0.88[ASN][1000 genomes]
rs7248460	0.95[EUR][1000 genomes]
rs7249852	0.95[EUR][1000 genomes]
rs7249941	0.95[EUR][1000 genomes]
rs7249962	0.95[EUR][1000 genomes]
rs7250531	0.94[EUR][1000 genomes]
rs7251826	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7253876	0.95[EUR][1000 genomes]
rs7255786	0.95[EUR][1000 genomes]
rs7256604	0.95[EUR][1000 genomes]
rs73029964	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73029965	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029970	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7359971	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8112032	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35740400-35744600	Weak transcription	Left Ventricle	heart
2	chr19:35740600-35745200	Weak transcription	Right Atrium	heart
3	chr19:35740600-35748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:35740600-35748200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:35740800-35744200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35740800-35747000	Weak transcription	Small Intestine	intestine
7	chr19:35740800-35747400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:35741000-35744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:35741000-35746000	Weak transcription	Fetal Heart	heart
10	chr19:35741000-35747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:35741000-35748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:35741000-35748200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:35741200-35744600	Weak transcription	Right Ventricle	heart
14	chr19:35741200-35744800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:35741200-35745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:35741400-35743200	Strong transcription	K562	blood
18	chr19:35741400-35743400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:35741400-35744000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr19:35741400-35744200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:35741400-35744200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:35741400-35744200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:35741400-35744400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:35741400-35745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:35741400-35748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:35741600-35743200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:35741600-35743200	Genic enhancers	Pancreas	Pancrea
29	chr19:35741600-35743200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr19:35741600-35743600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:35741600-35744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:35741600-35744200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:35741600-35744200	Weak transcription	Spleen	Spleen
34	chr19:35741600-35744400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:35741600-35744400	Weak transcription	Esophagus	oesophagus
36	chr19:35741600-35744400	Weak transcription	Hela-S3	cervix
37	chr19:35741600-35744600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:35741600-35744600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:35741600-35744600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:35741600-35747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:35741600-35748200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:35741800-35743200	Strong transcription	HMEC	breast
45	chr19:35741800-35744400	Weak transcription	Stomach Mucosa	stomach
46	chr19:35741800-35745200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr19:35741800-35746800	Genic enhancers	Liver	Liver
48	chr19:35742000-35756200	Strong transcription	NHEK	skin
49	chr19:35742400-35743200	Strong transcription	Lung	lung
50	chr19:35742400-35743400	Genic enhancers	Gastric	stomach

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