Variant report

Variant	rs144113163
Chromosome Location	chr19:53080328-53080329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3489578	chr19:53079641-53084219	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074200-53083600	Weak transcription	NH-A	brain
2	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr19:53074600-53084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:53074600-53085800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53074600-53087400	Weak transcription	Fetal Heart	heart
7	chr19:53074600-53088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
9	chr19:53075000-53082000	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:53075000-53082600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:53075200-53080600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr19:53075200-53081600	Weak transcription	Right Ventricle	heart
13	chr19:53075200-53082200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:53075200-53082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:53075400-53081800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:53075400-53084400	Strong transcription	Placenta	Placenta
17	chr19:53075400-53089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:53075400-53092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:53075400-53092400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:53075400-53092400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:53075600-53083400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:53075600-53085600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:53075600-53087000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:53075600-53087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:53075800-53080400	Strong transcription	Fetal Thymus	thymus
26	chr19:53075800-53081400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:53075800-53082000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:53075800-53082400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr19:53075800-53082400	Strong transcription	Left Ventricle	heart
30	chr19:53075800-53082400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:53075800-53085000	Strong transcription	Fetal Stomach	stomach
32	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:53075800-53087400	Strong transcription	Osteobl	bone
35	chr19:53075800-53088000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr19:53076000-53081000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr19:53076000-53082000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:53076000-53082200	Strong transcription	Adipose Nuclei	Adipose
39	chr19:53076400-53096000	Strong transcription	Dnd41	blood
40	chr19:53076600-53081600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:53077000-53082400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:53077600-53088000	Strong transcription	Fetal Brain Female	brain
43	chr19:53077800-53081800	Weak transcription	NHEK	skin
44	chr19:53077800-53082800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:53078000-53080800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:53079000-53080600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:53079000-53081200	Strong transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:53079000-53081400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:53079000-53082600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:53079000-53083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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