Variant report

Variant	nsv523139
Chromosome Location	chr3:554312-565961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:556350..557928-chr3:558208..559835,2	MCF-7	breast:
2	chr3:554700..557337-chr3:557649..560284,2	K562	blood:
3	chr3:556350..557928-chr3:558208..559835,2	MCF-7	breast:
4	chr3:554700..557337-chr3:557649..560284,2	K562	blood:
5	chr3:565796..568589-chr3:571178..572728,2	K562	blood:

Extended variants
information (count: 257 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147396393	chr3:554620-554621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77512511	chr3:554629-554630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536367381	chr3:554673-554674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549311832	chr3:554678-554679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191479398	chr3:554684-554685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529529009	chr3:554762-554763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182411997	chr3:554765-554766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187076539	chr3:554773-554774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528172048	chr3:554804-554805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9311442	chr3:554818-554819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375897664	chr3:554850-554851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537865973	chr3:554859-554860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549604664	chr3:554877-554878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192801327	chr3:554920-554921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185254174	chr3:554932-554933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563349343	chr3:554954-554955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116209851	chr3:554956-554957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554317420	chr3:554970-554971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190034609	chr3:554999-555000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550392601	chr3:555020-555021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9822336	chr3:555051-555052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138025153	chr3:555063-555064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577096930	chr3:555079-555080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547655466	chr3:555081-555082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76858943	chr3:555091-555092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536605995	chr3:555128-555129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143475328	chr3:555146-555147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs33997719	chr3:555161-555162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9883014	chr3:555184-555185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537139643	chr3:555189-555190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551811681	chr3:555195-555196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368246455	chr3:555234-555235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111415752	chr3:555237-555238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577085545	chr3:555316-555317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147166020	chr3:555327-555328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553263398	chr3:555391-555392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574353139	chr3:555410-555411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140340469	chr3:555446-555447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576026087	chr3:555455-555456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374490229	chr3:555462-555463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193210098	chr3:555500-555501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115948390	chr3:555512-555513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568397123	chr3:555569-555570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532531616	chr3:555593-555594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543840699	chr3:555594-555595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546057517	chr3:555711-555712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559570313	chr3:555726-555727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530324423	chr3:555733-555734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548603134	chr3:555734-555735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569933316	chr3:555773-555774	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:554600-556200	Enhancers	Hela-S3	cervix
2	chr3:554600-556400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:554800-556400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:555400-556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:556000-556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:560600-561200	Enhancers	Fetal Lung	lung
7	chr3:561200-562200	Weak transcription	Fetal Lung	lung
8	chr3:562600-562800	Enhancers	Fetal Lung	lung
9	chr3:563400-564600	Weak transcription	Aorta	Aorta
10	chr3:564200-564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:564600-564800	Enhancers	Aorta	Aorta

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