Variant report

Variant	rs551393017
Chromosome Location	chr19:56670601-56670602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56651508..56653852-chr19:56670143..56672532,2	K562	blood:
2	chr19:56629489..56634220-chr19:56669438..56672603,6	K562	blood:
3	chr19:56650990..56653515-chr19:56668518..56670798,3	K562	blood:
4	chr19:56664832..56668754-chr19:56669452..56673649,4	K562	blood:

Variant related genes	Relation type
ENSG00000142409	Chromatin interaction
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats 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	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv3427270	chr19:56670165-56672713	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
2	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
3	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:56654400-56671200	Weak transcription	Small Intestine	intestine
6	chr19:56655200-56672200	Weak transcription	NHDF-Ad	bronchial
7	chr19:56656400-56672200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:56659200-56673000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:56659400-56671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
11	chr19:56662000-56672200	Weak transcription	Fetal Heart	heart
12	chr19:56663000-56673200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:56663200-56674000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:56663800-56672400	Strong transcription	Dnd41	blood
15	chr19:56663800-56673000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:56663800-56673600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:56664000-56672800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:56664000-56673000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:56664600-56672800	Strong transcription	Fetal Intestine Large	intestine
20	chr19:56664800-56672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:56664800-56673800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:56664800-56673800	Strong transcription	Fetal Intestine Small	intestine
23	chr19:56665000-56674000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:56665200-56672400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:56665200-56673400	Strong transcription	Gastric	stomach
26	chr19:56665200-56674000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:56665200-56674400	Strong transcription	Fetal Stomach	stomach
28	chr19:56665400-56671000	Strong transcription	Fetal Lung	lung
29	chr19:56665400-56672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:56665400-56673200	Weak transcription	HUVEC	blood vessel
31	chr19:56665400-56674000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:56665400-56674200	Strong transcription	Fetal Brain Female	brain
33	chr19:56665600-56672600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:56665600-56672800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56665600-56673200	Strong transcription	Thymus	Thymus
36	chr19:56665600-56673400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:56665800-56673000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:56665800-56674200	Strong transcription	Brain Germinal Matrix	brain
39	chr19:56666000-56670800	Strong transcription	A549	lung
40	chr19:56666000-56672000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:56666000-56672400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:56666000-56672600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:56666000-56672600	Strong transcription	Fetal Thymus	thymus
44	chr19:56666000-56672800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:56666000-56673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:56666000-56673200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:56666000-56673200	Strong transcription	Placenta	Placenta
48	chr19:56666400-56673400	Strong transcription	Primary T cells from cord blood	blood
49	chr19:56666800-56673200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:56667000-56671200	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links