Variant report

Variant	esv2465653
Chromosome Location	chr10:19396815-19398443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:19373201..19375040-chr10:19394247..19396869,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544997618	chr10:19396823-19396824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563387031	chr10:19396846-19396847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533190492	chr10:19396872-19396873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530878906	chr10:19396929-19396930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145239086	chr10:19396936-19396937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368659271	chr10:19396941-19396942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567502911	chr10:19397004-19397005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529385000	chr10:19397015-19397016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547882987	chr10:19397031-19397032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551827711	chr10:19397098-19397099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8181341	chr10:19397121-19397122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539796936	chr10:19397149-19397150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190129554	chr10:19397172-19397173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11008503	chr10:19397235-19397236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537784673	chr10:19397308-19397309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375515825	chr10:19397316-19397317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11008504	chr10:19397318-19397319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147260219	chr10:19397319-19397320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139267490	chr10:19397324-19397325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35948766	chr10:19397354-19397355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61851286	chr10:19397357-19397358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568092097	chr10:19397404-19397405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537020151	chr10:19397412-19397413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201274655	chr10:19397468-19397469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372006890	chr10:19397469-19397470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370548981	chr10:19397520-19397521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555662147	chr10:19397593-19397594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548761034	chr10:19397598-19397599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573871240	chr10:19397636-19397637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567124807	chr10:19397637-19397638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552607902	chr10:19397641-19397642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12221192	chr10:19397655-19397656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577318250	chr10:19397707-19397708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544674114	chr10:19397759-19397760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75994757	chr10:19397776-19397777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557444399	chr10:19397792-19397793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74120725	chr10:19397802-19397803	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561189163	chr10:19397857-19397858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528255987	chr10:19397874-19397875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546821327	chr10:19397883-19397884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559885166	chr10:19397887-19397888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553061265	chr10:19397978-19397979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11008507	chr10:19397980-19397981	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551471983	chr10:19397985-19397986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368154329	chr10:19398066-19398067	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72788935	chr10:19398067-19398068	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117997413	chr10:19398069-19398070	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549234369	chr10:19398087-19398088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567627197	chr10:19398091-19398092	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534840083	chr10:19398129-19398130	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19392600-19398000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19393200-19398000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19397800-19398000	ZNF genes & repeats	Fetal Intestine Large	intestine
4	chr10:19398000-19398800	Strong transcription	Fetal Intestine Small	intestine
5	chr10:19398000-19399400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr10:19398000-19399600	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links