Variant report

Variant	rs192032063
Chromosome Location	chr19:51308879-51308880
allele	C/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:9)
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	NR2F2	chr19:51307531-51308897	K562	blood:	n/a	n/a
2	POLR2A	chr19:51305179-51309471	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51225685..51229614-chr19:51306371..51310193,7	MCF-7	breast:
2	chr19:51308172..51309760-chr19:51328581..51330697,2	MCF-7	breast:
3	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
4	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
5	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
6	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
7	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
8	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
9	chr19:51305954..51309003-chr19:51339405..51341608,4	K562	blood:

No data

Variant related genes	Relation type
SNORD88C	TF binding region
C19orf48	TF binding region
ENSG00000174562	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000167748	Chromatin interaction
ENSG00000180279	Chromatin interaction
ENSG00000167751	Chromatin interaction
ENSG00000129451	Chromatin interaction
ENSG00000267968	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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv519121	chr19:51308092-51332670	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51305800-51309000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:51306000-51309000	Active TSS	Colonic Mucosa	Colon
3	chr19:51306400-51309000	Active TSS	GM12878-XiMat	blood
4	chr19:51307000-51309000	Active TSS	K562	blood
5	chr19:51307200-51309000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:51307200-51309000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:51307200-51309000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:51307200-51309000	Active TSS	A549	lung
9	chr19:51307400-51309000	Active TSS	Liver	Liver
10	chr19:51307400-51309000	Active TSS	Brain Angular Gyrus	brain
11	chr19:51307400-51309000	Active TSS	Duodenum Mucosa	Duodenum
12	chr19:51307400-51309000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr19:51307400-51309000	Active TSS	Stomach Smooth Muscle	stomach
14	chr19:51307600-51309000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:51308400-51309000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr19:51308400-51309000	Enhancers	Fetal Heart	heart
17	chr19:51308600-51309000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:51308600-51309000	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr19:51308600-51309000	Flanking Active TSS	Hela-S3	cervix
20	chr19:51308600-51309000	Flanking Active TSS	HepG2	liver
21	chr19:51308600-51309200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:51308600-51309200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:51308600-51309200	Flanking Active TSS	Dnd41	blood
24	chr19:51308600-51309400	Enhancers	Spleen	Spleen
25	chr19:51308600-51309600	Enhancers	Pancreas	Pancrea
26	chr19:51308800-51309000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:51308800-51309000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:51308800-51309000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr19:51308800-51309000	Enhancers	Primary B cells from cord blood	blood
30	chr19:51308800-51309000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr19:51308800-51309000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:51308800-51309000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr19:51308800-51309000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:51308800-51309000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr19:51308800-51309000	Enhancers	Brain Substantia Nigra	brain
36	chr19:51308800-51309000	Enhancers	Colon Smooth Muscle	Colon
37	chr19:51308800-51309000	Enhancers	Fetal Muscle Leg	muscle
38	chr19:51308800-51309000	Enhancers	Fetal Thymus	thymus
39	chr19:51308800-51309200	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:51308800-51309200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr19:51308800-51309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:51308800-51309200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:51308800-51309200	Enhancers	Brain Hippocampus Middle	brain
44	chr19:51308800-51309200	Enhancers	Fetal Brain Male	brain
45	chr19:51308800-51309400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr19:51308800-51309400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:51308800-51309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:51308800-51309600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:51308800-51309600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr19:51308800-51310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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