Variant report

Variant	nsv435775
Chromosome Location	chr4:22026385-22032731
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	chr4:22028111..22029824-chr4:22035660..22037244,2	MCF-7	breast:
2	chr4:22022641..22025613-chr4:22031377..22033219,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571826366	chr4:22028611-22028612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376776442	chr4:22028618-22028619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539355222	chr4:22028652-22028653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2015779	chr4:22028672-22028673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368829635	chr4:22028687-22028688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367617352	chr4:22028703-22028704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554233287	chr4:22028705-22028706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149977129	chr4:22028715-22028716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111478659	chr4:22028739-22028740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577740113	chr4:22028777-22028778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541986456	chr4:22028797-22028798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539822052	chr4:22028827-22028828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564927454	chr4:22028920-22028921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4696999	chr4:22028976-22028977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547274923	chr4:22031022-22031023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529998040	chr4:22031076-22031077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542906577	chr4:22031081-22031082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141165914	chr4:22031085-22031086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150711532	chr4:22031093-22031094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137991603	chr4:22031114-22031115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552722213	chr4:22031134-22031135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374315338	chr4:22031160-22031161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75114055	chr4:22031181-22031182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531964892	chr4:22031207-22031208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4697262	chr4:22031239-22031240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568200780	chr4:22031279-22031280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183762348	chr4:22031284-22031285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34048835	chr4:22031288-22031289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372475674	chr4:22031362-22031363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373171763	chr4:22031437-22031438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189276153	chr4:22031438-22031439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149473642	chr4:22031457-22031458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557649348	chr4:22031483-22031484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147165437	chr4:22031492-22031493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541125317	chr4:22031500-22031501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543221833	chr4:22031504-22031505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140547993	chr4:22031530-22031531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561284101	chr4:22031586-22031587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574884358	chr4:22031614-22031615	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs116175045	chr4:22031642-22031643	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539640380	chr4:22031696-22031697	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10004742	chr4:22031734-22031735	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527700623	chr4:22031811-22031812	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546492850	chr4:22031818-22031819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564773220	chr4:22031836-22031837	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115939392	chr4:22031838-22031839	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181233897	chr4:22031842-22031843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550035424	chr4:22031857-22031858	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568139376	chr4:22031911-22031912	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186210191	chr4:22031925-22031926	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22028600-22028800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr4:22028800-22029000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr4:22031000-22032000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:22031000-22032200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:22031200-22032400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:22031600-22031800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:22031600-22032000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:22031600-22032200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:22031800-22032000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:22031800-22032200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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