Variant report

Variant	rs56060517
Chromosome Location	chr19:52996839-52996840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3404701	chr19:52986895-53035152	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1058567	chr19:52992455-53021505	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3440535	chr19:52993529-53035203	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52994200-52997200	ZNF genes & repeats	Ovary	ovary
2	chr19:52994600-52999400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:52994800-52997000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr19:52994800-52997200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:52994800-52997600	ZNF genes & repeats	Fetal Stomach	stomach
6	chr19:52995200-52997200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:52995400-52997000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:52995400-52997200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:52995400-52997200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:52995400-52997200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:52995400-52997400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:52995600-52997000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:52995600-52997000	ZNF genes & repeats	Esophagus	oesophagus
14	chr19:52995600-52997200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:52995600-52997200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:52995600-52997200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:52995600-52997200	ZNF genes & repeats	Pancreas	Pancrea
18	chr19:52995600-52997400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:52995600-52997400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:52995800-52997000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:52996000-52997000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:52996000-52997000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr19:52996000-52997000	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:52996000-52997000	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:52996000-52997000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr19:52996000-52997200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:52996000-52997200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:52996000-52997200	ZNF genes & repeats	Placenta	Placenta
29	chr19:52996000-52997800	ZNF genes & repeats	Liver	Liver
30	chr19:52996200-52997200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:52996200-53002200	Weak transcription	Aorta	Aorta
32	chr19:52996400-52997200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr19:52996400-52997200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr19:52996600-52997000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr19:52996600-52997000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
36	chr19:52996600-52997000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr19:52996600-52997200	Flanking Active TSS	Dnd41	blood
38	chr19:52996800-52997000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr19:52996800-52997000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:52996800-52997000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:52996800-52997400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr19:52996800-53000400	Weak transcription	Left Ventricle	heart
43	chr19:52996800-53001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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