Variant report

Variant	rs11880964
Chromosome Location	chr19:21241345-21241346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10401988	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10402207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10407928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411360	0.83[AMR][1000 genomes]
rs10411471	0.91[LWK][hapmap];0.89[MKK][hapmap];0.90[YRI][hapmap]
rs10413561	0.83[AMR][1000 genomes]
rs10424613	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425562	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10425664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13345905	0.95[YRI][hapmap];0.83[AMR][1000 genomes]
rs13346419	0.91[LWK][hapmap]
rs28394595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28500793	0.83[AMR][1000 genomes]
rs28635135	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28858186	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35569945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59498150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247708	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	0.96[AFR][1000 genomes]
rs7250059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537721	0.83[AMR][1000 genomes]
rs9941493	0.83[AFR][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	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
4	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
8	chr19:21227800-21247200	Weak transcription	HepG2	liver
9	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:21231600-21241600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:21232200-21242200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:21232200-21242400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:21232200-21243600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:21234200-21242400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:21234600-21241400	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:21235200-21242000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:21235200-21242600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:21235400-21243200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:21235600-21241600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
22	chr19:21235800-21241600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:21236000-21247000	Weak transcription	Pancreas	Pancrea
24	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:21237000-21241600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:21237200-21241600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:21237600-21241600	ZNF genes & repeats	Fetal Brain Female	brain
28	chr19:21238000-21241600	ZNF genes & repeats	HMEC	breast
29	chr19:21238200-21241600	ZNF genes & repeats	Fetal Lung	lung
30	chr19:21238200-21241600	ZNF genes & repeats	NHEK	skin
31	chr19:21238200-21241800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:21238400-21241400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr19:21238400-21242200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr19:21238400-21242400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:21238400-21248400	Weak transcription	Psoas Muscle	Psoas
36	chr19:21238600-21241400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:21238600-21241400	Strong transcription	Fetal Kidney	kidney
38	chr19:21238600-21241600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:21238600-21241600	Strong transcription	Brain Anterior Caudate	brain
40	chr19:21238600-21241600	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr19:21238600-21241800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:21238800-21241400	Strong transcription	Placenta	Placenta
43	chr19:21238800-21242200	Strong transcription	HSMM	muscle
44	chr19:21239000-21241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:21239000-21243200	Weak transcription	K562	blood
46	chr19:21239200-21241600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:21239200-21245400	Weak transcription	Esophagus	oesophagus
48	chr19:21239200-21246800	Weak transcription	Aorta	Aorta
49	chr19:21239800-21241600	Strong transcription	Dnd41	blood
50	chr19:21239800-21249400	Weak transcription	Hela-S3	cervix

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