Variant report

Variant	esv2517583
Chromosome Location	chr19:23505593-23508324
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	POLR2A	chr19:23507975-23508256	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:23505769-23507294	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:23505902-23506444	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:23508150-23508201	ProgFib	skin:	n/a	n/a
5	POLR2A	chr19:23506242-23506567	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:23508141-23508143	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:23508123-23508142	ProgFib	skin:	n/a	n/a
8	POLR2A	chr19:23508068-23508131	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:23507452-23508593	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:23506796-23506838	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:23507359-23507700	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF730-11	chr19:23506770-23511903	ENSG00000267934.1

Variant related genes	Relation type
ENSG00000267934	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148256673	chr19:23505598-23505599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60926215	chr19:23505604-23505605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144964054	chr19:23505607-23505608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138575172	chr19:23505611-23505612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201748579	chr19:23505615-23505616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143570097	chr19:23505622-23505623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141551050	chr19:23505634-23505635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140074657	chr19:23505637-23505638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368912224	chr19:23505647-23505648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558471636	chr19:23505670-23505671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370369173	chr19:23505698-23505699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374711553	chr19:23505702-23505703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199896830	chr19:23505704-23505705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368689625	chr19:23505706-23505707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372042270	chr19:23505709-23505710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374580502	chr19:23505715-23505716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368656640	chr19:23505721-23505722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371862888	chr19:23505722-23505723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376936554	chr19:23505725-23505726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367924617	chr19:23505728-23505729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371356025	chr19:23505730-23505731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143168859	chr19:23505734-23505735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368322775	chr19:23505736-23505737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375718964	chr19:23505739-23505740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372533501	chr19:23505742-23505743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147996133	chr19:23505743-23505744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375779128	chr19:23505744-23505745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386808068	chr19:23505745-23505746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386808069	chr19:23505746-23505747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550048030	chr19:23505748-23505749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376011993	chr19:23505749-23505750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370135068	chr19:23505750-23505751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368998275	chr19:23505754-23505755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372411001	chr19:23505755-23505756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374751645	chr19:23505757-23505758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371912874	chr19:23505758-23505759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368882316	chr19:23505760-23505761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568105230	chr19:23505825-23505826	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535391885	chr19:23505829-23505830	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547535068	chr19:23505831-23505832	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150258370	chr19:23505840-23505841	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs368554653	chr19:23505843-23505844	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565744181	chr19:23505871-23505872	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539501881	chr19:23505872-23505873	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573526052	chr19:23505903-23505904	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545184429	chr19:23505917-23505918	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551127429	chr19:23505924-23505925	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558095826	chr19:23505952-23505953	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142690290	chr19:23505957-23505958	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369955680	chr19:23505958-23505959	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23486400-23508000	Weak transcription	Ovary	ovary
2	chr19:23490000-23514200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:23491800-23508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:23491800-23512800	Weak transcription	Left Ventricle	heart
5	chr19:23494400-23518200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:23496600-23512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:23500400-23516600	Weak transcription	Right Ventricle	heart
8	chr19:23500800-23505800	Enhancers	Placenta	Placenta
9	chr19:23501200-23512600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:23504200-23507800	Weak transcription	Aorta	Aorta
11	chr19:23505200-23511000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:23505400-23505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:23505800-23506800	Weak transcription	Placenta	Placenta
14	chr19:23505800-23507200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr19:23506000-23507000	ZNF genes & repeats	Liver	Liver
16	chr19:23506000-23509600	ZNF genes & repeats	Fetal Lung	lung
17	chr19:23506000-23522000	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:23506000-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:23506200-23512600	Weak transcription	Pancreas	Pancrea
20	chr19:23506400-23515000	Weak transcription	Brain Anterior Caudate	brain
21	chr19:23506400-23522200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:23506600-23507000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:23506600-23510000	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:23506600-23511000	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:23506600-23518400	Weak transcription	Brain Substantia Nigra	brain
26	chr19:23506800-23507400	Enhancers	Placenta	Placenta
27	chr19:23506800-23513600	Weak transcription	Fetal Heart	heart
28	chr19:23507000-23507600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:23507000-23514200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:23507200-23508400	ZNF genes & repeats	Fetal Stomach	stomach
31	chr19:23507200-23509400	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr19:23507400-23516600	Weak transcription	Placenta	Placenta
33	chr19:23507600-23508600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr19:23507600-23514200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:23507800-23508000	ZNF genes & repeats	HSMMtube	muscle
36	chr19:23507800-23508600	Strong transcription	Aorta	Aorta
37	chr19:23507800-23508800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:23507800-23509600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:23507800-23509800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr19:23508000-23508400	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr19:23508000-23508600	ZNF genes & repeats	Fetal Brain Male	brain
42	chr19:23508000-23508800	ZNF genes & repeats	Fetal Kidney	kidney
43	chr19:23508000-23509400	Strong transcription	Ovary	ovary
44	chr19:23508000-23509600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:23508000-23509600	Strong transcription	HSMMtube	muscle
46	chr19:23508200-23517000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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