Variant report

Variant	nsv508212
Chromosome Location	chr3:22076776-22100119
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	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
2	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114986593	chr3:22079819-22079820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541182122	chr3:22079827-22079828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114619440	chr3:22079829-22079830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529958546	chr3:22079837-22079838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185704255	chr3:22079888-22079889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563466320	chr3:22079930-22079931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372324004	chr3:22079955-22079956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560039699	chr3:22079977-22079978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74738023	chr3:22079992-22079993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200793413	chr3:22080020-22080021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370627800	chr3:22080024-22080025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145109246	chr3:22080066-22080067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571672785	chr3:22080102-22080103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532471535	chr3:22080164-22080165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11924399	chr3:22080196-22080197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs711690	chr3:22080210-22080211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577131317	chr3:22080213-22080214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536482050	chr3:22080241-22080242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188668069	chr3:22080245-22080246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570269196	chr3:22080247-22080248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546095078	chr3:22080254-22080255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113750123	chr3:22080274-22080275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558271716	chr3:22080310-22080311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528062927	chr3:22080321-22080322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375734502	chr3:22080332-22080333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576960525	chr3:22080345-22080346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113432212	chr3:22080363-22080364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147175571	chr3:22080377-22080378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373303916	chr3:22080378-22080379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115709993	chr3:22080381-22080382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11928454	chr3:22080389-22080390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs810429	chr3:22080461-22080462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542070785	chr3:22080479-22080480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs711689	chr3:22080522-22080523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77173811	chr3:22080535-22080536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114092219	chr3:22080576-22080577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192750731	chr3:22080596-22080597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532409569	chr3:22080603-22080604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554436920	chr3:22080612-22080613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547470342	chr3:22080613-22080614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528757702	chr3:22080620-22080621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59798829	chr3:22080631-22080632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs813582	chr3:22080653-22080654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548507035	chr3:22080662-22080663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183928661	chr3:22080667-22080668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140424520	chr3:22080705-22080706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552875476	chr3:22080715-22080716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76167625	chr3:22080746-22080747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77558320	chr3:22080747-22080748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397877237	chr3:22080748-22080749	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	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
Oral squamous cell carcinoma	17134496	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
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22079800-22081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:22089400-22089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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