Variant report

Variant	esv11535
Chromosome Location	chr19:21824680-21833833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 582 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71333836	chr19:21824682-21824683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71333837	chr19:21824685-21824686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs66760984	chr19:21824706-21824707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs66628182	chr19:21824722-21824723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs66740503	chr19:21824739-21824740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148893136	chr19:21824764-21824765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12460950	chr19:21824781-21824782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193166769	chr19:21824797-21824798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71333838	chr19:21824812-21824813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs71333839	chr19:21824822-21824823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546961839	chr19:21824850-21824851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67395636	chr19:21824876-21824877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145411961	chr19:21824883-21824884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185390438	chr19:21824899-21824900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187987087	chr19:21824915-21824916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs68089169	chr19:21824950-21824951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138564902	chr19:21824953-21824954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570882163	chr19:21824954-21824955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141552927	chr19:21824974-21824975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575662283	chr19:21824990-21824991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73542306	chr19:21825010-21825011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558832090	chr19:21825012-21825013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552824830	chr19:21825020-21825021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs68187621	chr19:21825021-21825022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554873784	chr19:21825027-21825028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111434431	chr19:21825028-21825029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66876878	chr19:21825062-21825063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs71333840	chr19:21825069-21825070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs67042975	chr19:21825081-21825082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs67673622	chr19:21825103-21825104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562841691	chr19:21825128-21825129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71333841	chr19:21825186-21825187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200362758	chr19:21825205-21825206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377637684	chr19:21825206-21825207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71178721	chr19:21825208-21825209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201421486	chr19:21825209-21825210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568972633	chr19:21825212-21825213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536053365	chr19:21825238-21825239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62108442	chr19:21825253-21825254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34367439	chr19:21825293-21825294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34321196	chr19:21825299-21825300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71178722	chr19:21825300-21825301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554701861	chr19:21825307-21825308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572960973	chr19:21825339-21825340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34810593	chr19:21825360-21825361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201674593	chr19:21825387-21825388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142786280	chr19:21825388-21825389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77536032	chr19:21825389-21825390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372781956	chr19:21825390-21825391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558910359	chr19:21825405-21825406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21817200-21827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:21817400-21827200	Weak transcription	Fetal Intestine Small	intestine
3	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea
4	chr19:21829800-21830600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr19:21830600-21831800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:21831800-21832200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr19:21832400-21834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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