Variant report

Variant	rs58686910
Chromosome Location	chr19:21799119-21799120
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56177049	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58399826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58691880	1.00[AFR][1000 genomes]
rs60559953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61242234	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61563055	1.00[AMR][1000 genomes]
rs7254417	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546753	1.00[AMR][1000 genomes]
rs73546766	1.00[AMR][1000 genomes]
rs73546769	1.00[AMR][1000 genomes]
rs73546778	1.00[AMR][1000 genomes]
rs73546782	1.00[AMR][1000 genomes]
rs73546785	1.00[AMR][1000 genomes]
rs73546787	1.00[AMR][1000 genomes]
rs73550367	1.00[AMR][1000 genomes]
rs73552443	1.00[AMR][1000 genomes]
rs73552446	1.00[AMR][1000 genomes]
rs73552469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552476	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552482	1.00[AMR][1000 genomes]
rs73931207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104582	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3392559	chr19:21798396-21965956	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2760530	chr19:21798427-21885936	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21796000-21800600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:21796800-21800000	Weak transcription	Dnd41	blood
3	chr19:21798200-21799200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:21798200-21799200	Active TSS	HUVEC	blood vessel
5	chr19:21798200-21800400	Weak transcription	K562	blood
6	chr19:21798400-21799200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:21798400-21799200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:21798400-21799200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:21798800-21799200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:21798800-21799200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:21798800-21799200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:21798800-21799200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:21798800-21799200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:21798800-21799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:21798800-21799200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:21798800-21799200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:21798800-21799200	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr19:21798800-21799200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:21798800-21799200	Active TSS	Stomach Smooth Muscle	stomach
20	chr19:21798800-21799200	Active TSS	HMEC	breast
21	chr19:21798800-21799200	Active TSS	NH-A	brain
22	chr19:21798800-21799200	Active TSS	NHDF-Ad	bronchial
23	chr19:21798800-21799200	Active TSS	NHEK	skin

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