Variant report

Variant	rs551078596
Chromosome Location	chr19:19650694-19650695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:19650454-19650770	GM12878	blood:	n/a	n/a
2	E2F6	chr19:19650689-19651436	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19649974..19652165-chr19:19739340..19740963,2	MCF-7	breast:
2	chr19:19625369..19628375-chr19:19648780..19652325,4	MCF-7	breast:
3	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
4	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
5	chr19:19649600..19655493-chr19:19770960..19774805,7	K562	blood:
6	chr19:19625665..19627306-chr19:19648287..19650892,2	K562	blood:

No data

Variant related genes	Relation type
CILP2	TF binding region
ENSG00000178093	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000064547	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv911307	chr19:19631655-19657143	Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911308	chr19:19631655-19663850	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1807343	chr19:19639345-19669570	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv543928	chr19:19649839-19664043	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19630600-19651800	Weak transcription	A549	lung
2	chr19:19643600-19675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19648200-19651400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr19:19648200-19651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:19648400-19651400	Bivalent Enhancer	Fetal Stomach	stomach
6	chr19:19649200-19651400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:19649400-19650800	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr19:19649600-19651400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr19:19649600-19651400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:19649600-19651400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr19:19649600-19651400	Weak transcription	GM12878-XiMat	blood
12	chr19:19649800-19650800	Weak transcription	Pancreas	Pancrea
13	chr19:19649800-19650800	Weak transcription	Right Atrium	heart
14	chr19:19649800-19651000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:19649800-19651400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:19649800-19651400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:19649800-19651400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:19649800-19651400	Weak transcription	Brain Angular Gyrus	brain
19	chr19:19649800-19651600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:19649800-19651600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:19650000-19650800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:19650000-19650800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:19650000-19651000	Weak transcription	Right Ventricle	heart
24	chr19:19650000-19651400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:19650000-19651400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:19650000-19651400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:19650000-19651600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:19650000-19651600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:19650200-19651600	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr19:19650400-19650800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr19:19650400-19651200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr19:19650400-19651400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:19650400-19651400	ZNF genes & repeats	Lung	lung
34	chr19:19650400-19651600	ZNF genes & repeats	Spleen	Spleen
35	chr19:19650400-19653000	Bivalent Enhancer	Placenta	Placenta
36	chr19:19650600-19650800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:19650600-19650800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr19:19650600-19651000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr19:19650600-19651200	Enhancers	Ovary	ovary
40	chr19:19650600-19651600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr19:19650600-19652600	Enhancers	Gastric	stomach

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