Variant report

Variant	esv12961
Chromosome Location	chr19:21981239-21984009
allele	n/a
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	MYC	chr19:21983805-21983810	NB4	blood:	n/a	n/a
2	POLR2A	chr19:21984009-21984029	ProgFib	skin:	n/a	n/a
3	POLR2A	chr19:21983169-21983482	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:21983239-21983388	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:21983585-21983819	ProgFib	skin:	n/a	n/a
6	WRNIP1	chr19:21983494-21983557	GM12878	blood:	n/a	n/a
7	ZNF143	chr19:21983338-21983429	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF257-7	chr19:21983282-21984068	NONHSAT063745

Variant related genes	Relation type
ENSG00000269136	TF binding region
ENSG00000268184	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527237108	chr19:21983173-21983174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548653782	chr19:21983221-21983222	ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560529408	chr19:21983258-21983259	ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527837364	chr19:21983270-21983271	ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117661269	chr19:21983292-21983293	ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs55717306	chr19:21983400-21983401	ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567531149	chr19:21983432-21983433	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs373933095	chr19:21983498-21983499	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs55763625	chr19:21983533-21983534	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188678001	chr19:21983577-21983578	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117520055	chr19:21983583-21983584	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs34670715	chr19:21983598-21983599	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569824926	chr19:21983612-21983613	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs144458394	chr19:21983635-21983636	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs538466780	chr19:21983716-21983717	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs376916426	chr19:21983724-21983725	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs554609923	chr19:21983725-21983726	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs572956766	chr19:21983746-21983747	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558186292	chr19:21983770-21983771	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs61494593	chr19:21983964-21983965	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs16998391	chr19:21983965-21983966	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576755408	chr19:21983985-21983986	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544097836	chr19:21983995-21983996	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21983200-21983400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:21983200-21983800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:21983400-21987000	ZNF genes & repeats	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links