Variant report

Variant	rs368761332
Chromosome Location	chr19:52076576-52076577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr19:52075387-52077326	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr19:52075754-52077117	HUVEC	blood vessel:	n/a	chr19:52075825-52075835 chr19:52076736-52076745 chr19:52076927-52076934 chr19:52076831-52076840
3	POLR2A	chr19:52074025-52077434	U87	brain:	n/a	n/a
4	POLR2A	chr19:52076568-52077326	K562	blood:	n/a	n/a
5	POLR2A	chr19:52075274-52077228	HUVEC	blood vessel:	n/a	n/a
6	CEBPB	chr19:52075837-52076906	IMR90	lung:	n/a	n/a
7	POLR2A	chr19:52076171-52076812	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:52074059-52077284	PBDE	blood:	n/a	n/a
9	GATA1	chr19:52074810-52077148	PBDE	blood:	n/a	chr19:52075825-52075835 chr19:52074842-52074853 chr19:52076736-52076745 chr19:52076927-52076934 chr19:52076831-52076840
10	POLR2A	chr19:52074872-52077276	U87	brain:	n/a	n/a
11	POLR2A	chr19:52076325-52076707	K562	blood:	n/a	n/a
12	POLR2A	chr19:52074937-52076991	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr19:52075327-52076974	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:52074069-52077434	U87	brain:	n/a	n/a
15	POLR2A	chr19:52074872-52077594	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52075666..52078013-chr19:52102124..52103680,2	K562	blood:
2	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

Variant related genes	Relation type
ZNF175	TF binding region
ENSG00000269388	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000267808	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52074800-52077400	Flanking Active TSS	HUVEC	blood vessel
2	chr19:52075000-52076800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:52075000-52077000	Flanking Active TSS	Osteobl	bone
4	chr19:52075200-52077000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:52075400-52076600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:52075400-52076600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:52075400-52076800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:52075400-52084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:52075400-52087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:52075400-52090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:52075600-52076600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:52075600-52076600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:52075600-52076600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:52075600-52076600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr19:52075600-52076600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr19:52075600-52076600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:52075600-52076800	Enhancers	Colon Smooth Muscle	Colon
18	chr19:52075600-52076800	Enhancers	Right Atrium	heart
19	chr19:52075600-52084400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:52075600-52084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:52075600-52084600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:52075600-52084600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:52075600-52084600	Weak transcription	Colonic Mucosa	Colon
24	chr19:52075600-52084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:52075600-52084800	Weak transcription	Fetal Kidney	kidney
26	chr19:52075600-52089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr19:52075800-52076600	Weak transcription	Aorta	Aorta
28	chr19:52075800-52076600	Enhancers	Fetal Brain Male	brain
29	chr19:52075800-52076600	Enhancers	Fetal Brain Female	brain
30	chr19:52075800-52076600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:52075800-52076600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:52075800-52076800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr19:52075800-52077000	Enhancers	Psoas Muscle	Psoas
34	chr19:52075800-52077000	Flanking Active TSS	GM12878-XiMat	blood
35	chr19:52075800-52078000	Strong transcription	Thymus	Thymus
36	chr19:52075800-52079600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:52075800-52079600	Weak transcription	Primary B cells from cord blood	blood
38	chr19:52075800-52079800	Weak transcription	Gastric	stomach
39	chr19:52075800-52081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:52075800-52083600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:52075800-52084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:52075800-52084200	Weak transcription	HSMMtube	muscle
43	chr19:52075800-52085000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:52075800-52090000	Weak transcription	Stomach Mucosa	stomach
45	chr19:52075800-52096800	Weak transcription	HepG2	liver
46	chr19:52076000-52076600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:52076000-52076600	Weak transcription	Brain Angular Gyrus	brain
48	chr19:52076000-52076600	Weak transcription	NHEK	skin
49	chr19:52076000-52076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:52076000-52076800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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