Variant report

Variant	rs543107424
Chromosome Location	chr19:51844060-51844061
allele	C/T
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	MAZ	chr19:51841761-51844263	K562	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
2	ZBTB7A	chr19:51843219-51844078	K562	blood:	n/a	n/a
3	ZBTB7A	chr19:51843238-51844093	K562	blood:	n/a	n/a
4	POLR2A	chr19:51842868-51844090	A549	lung:	n/a	n/a
5	ESRRA	chr19:51843165-51844118	GM12878	blood:	n/a	chr19:51843582-51843596 chr19:51843581-51843597 chr19:51843463-51843473 chr19:51843582-51843601 chr19:51843461-51843473
6	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:51842878-51844694	A549	lung:	n/a	n/a
8	POLR2A	chr19:51842934-51844060	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr19:51841807-51844122	IMR90	lung:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
10	TCF12	chr19:51841794-51844228	A549	lung:	n/a	chr19:51843783-51843793
11	MXI1	chr19:51841395-51844121	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr19:51842007-51844097	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:51842870-51844226	IMR90	lung:	n/a	n/a
14	POLR2A	chr19:51843153-51844477	HepG2	liver:	n/a	n/a
15	JUN	chr19:51841266-51844229	K562	blood:	n/a	chr19:51842877-51842886 chr19:51842453-51842462 chr19:51842826-51842836 chr19:51843435-51843444
16	POLR2A	chr19:51841748-51844486	K562	blood:	n/a	n/a
17	CTCF	chr19:51841495-51844609	A549	lung:	n/a	chr19:51843444-51843457 chr19:51842691-51842712 chr19:51842697-51842713 chr19:51843837-51843850
18	POLR2A	chr19:51842902-51844631	K562	blood:	n/a	n/a
19	POLR2A	chr19:51842928-51844501	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
2	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
3	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
4	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
5	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
6	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:

Variant related genes	Relation type
VSIG10L	TF binding region
ENSG00000267984	TF binding region
ENSG00000105379	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000268889	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
4	esv3380303	chr19:51842165-51844913	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51841800-51844200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:51842000-51844200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:51842000-51845200	Active TSS	Esophagus	oesophagus
4	chr19:51842600-51844600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:51842800-51847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:51843000-51844200	Active TSS	Colon Smooth Muscle	Colon
7	chr19:51843000-51844200	Active TSS	HSMMtube	muscle
8	chr19:51843000-51844200	Active TSS	NHDF-Ad	bronchial
9	chr19:51843000-51844800	Active TSS	HepG2	liver
10	chr19:51843000-51847400	Weak transcription	Dnd41	blood
11	chr19:51843000-51852200	Weak transcription	Fetal Heart	heart
12	chr19:51843000-51857600	Weak transcription	Fetal Kidney	kidney
13	chr19:51843200-51844200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:51843200-51857400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:51843400-51844200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr19:51843400-51844200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:51843400-51844200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:51843400-51844200	Flanking Active TSS	Colonic Mucosa	Colon
19	chr19:51843400-51844200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr19:51843400-51844400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr19:51843400-51844800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:51843600-51844200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:51843600-51844200	Enhancers	Spleen	Spleen
24	chr19:51843600-51844200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr19:51843600-51844400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:51843600-51844400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:51843600-51844400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr19:51843600-51848000	Weak transcription	Primary T cells from cord blood	blood
29	chr19:51843600-51854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:51843800-51844200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:51843800-51844200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr19:51843800-51844200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:51843800-51844200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:51843800-51844200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr19:51843800-51844200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr19:51843800-51844400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:51843800-51844400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:51843800-51844400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr19:51843800-51844400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr19:51843800-51844400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:51843800-51844400	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr19:51843800-51844400	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr19:51843800-51847400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:51843800-51848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:51843800-51848000	Weak transcription	Lung	lung
46	chr19:51843800-51848600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:51843800-51848800	Enhancers	Primary B cells from peripheral blood	blood
48	chr19:51843800-51849600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:51843800-51854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:51843800-51857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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