Variant report

Variant	nsv550135
Chromosome Location	chr10:19726945-19758593
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	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:

Extended variants
information (count: 1632 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2496079	chr10:19726945-19726946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113094546	chr10:19726956-19726957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147789805	chr10:19726972-19726973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2496078	chr10:19726989-19726990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572224431	chr10:19727030-19727031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113832415	chr10:19727074-19727075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542926947	chr10:19727104-19727105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536022778	chr10:19727111-19727112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199765332	chr10:19727112-19727113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548380693	chr10:19727134-19727135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566687320	chr10:19727145-19727146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189146489	chr10:19727181-19727182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1332938	chr10:19727185-19727186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181640785	chr10:19727197-19727198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1576942	chr10:19727217-19727218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78755240	chr10:19727233-19727234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375859885	chr10:19727288-19727289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2095125	chr10:19727289-19727290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1332937	chr10:19727292-19727293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568411297	chr10:19727294-19727295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186701238	chr10:19727295-19727296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554042666	chr10:19727315-19727316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572245997	chr10:19727341-19727342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189529580	chr10:19727363-19727364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552001213	chr10:19727387-19727388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558796909	chr10:19727402-19727403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181069887	chr10:19727427-19727428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2095126	chr10:19727436-19727437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559454607	chr10:19727452-19727453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529847012	chr10:19727472-19727473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562535990	chr10:19727509-19727510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148423096	chr10:19727529-19727530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2104910	chr10:19727534-19727535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114500914	chr10:19727539-19727540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185090014	chr10:19727555-19727556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2496049	chr10:19727560-19727561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142582522	chr10:19727586-19727587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2483085	chr10:19727593-19727594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549551459	chr10:19727608-19727609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2496048	chr10:19727623-19727624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150981666	chr10:19727662-19727663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1412780	chr10:19727696-19727697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371638104	chr10:19727697-19727698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189554918	chr10:19727698-19727699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77789434	chr10:19727706-19727707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532339656	chr10:19727722-19727723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577310855	chr10:19727730-19727731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76649124	chr10:19727740-19727741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67553188	chr10:19727751-19727752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147666206	chr10:19727753-19727754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19695400-19739200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19705600-19739000	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19728200-19728400	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr10:19728400-19734200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:19734200-19735200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr10:19735200-19742400	Weak transcription	Fetal Intestine Small	intestine
8	chr10:19739000-19740600	Strong transcription	Fetal Intestine Large	intestine
9	chr10:19739200-19740000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr10:19740000-19781200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:19740600-19741000	Enhancers	Adipose Nuclei	Adipose
12	chr10:19740600-19741400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:19740600-19750200	Weak transcription	Fetal Intestine Large	intestine
14	chr10:19742400-19743000	Strong transcription	Fetal Intestine Small	intestine
15	chr10:19743000-19750400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:19750200-19751400	Strong transcription	Fetal Intestine Large	intestine
17	chr10:19750400-19750800	Strong transcription	Fetal Intestine Small	intestine
18	chr10:19750800-19754400	Weak transcription	Fetal Intestine Small	intestine
19	chr10:19751400-19777600	Weak transcription	Fetal Intestine Large	intestine
20	chr10:19754400-19754800	Strong transcription	Fetal Intestine Small	intestine
21	chr10:19754800-19755800	Weak transcription	Fetal Intestine Small	intestine
22	chr10:19755800-19756200	Strong transcription	Fetal Intestine Small	intestine
23	chr10:19756200-19777600	Weak transcription	Fetal Intestine Small	intestine

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