Variant report

Variant	nsv1008160
Chromosome Location	chr4:28097388-28116969
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	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:
2	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:

Extended variants
information (count: 247 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544616446	chr4:28106206-28106207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564695835	chr4:28106207-28106208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116365739	chr4:28106232-28106233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543953891	chr4:28106266-28106267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561174649	chr4:28106302-28106303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115690995	chr4:28106309-28106310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142651133	chr4:28106332-28106333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560426515	chr4:28106333-28106334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566781098	chr4:28106334-28106335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532413669	chr4:28106351-28106352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35955539	chr4:28106353-28106354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551776483	chr4:28106362-28106363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181289119	chr4:28106401-28106402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537585900	chr4:28106419-28106420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1405682	chr4:28106458-28106459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114915379	chr4:28106483-28106484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536452464	chr4:28106554-28106555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143379037	chr4:28106592-28106593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148370927	chr4:28106601-28106602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573220819	chr4:28106609-28106610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79776032	chr4:28106635-28106636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558555055	chr4:28106648-28106649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140569417	chr4:28106819-28106820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544340587	chr4:28106856-28106857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373465304	chr4:28106866-28106867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185358067	chr4:28106879-28106880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77459467	chr4:28106904-28106905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575922931	chr4:28106906-28106907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540442681	chr4:28106932-28106933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545406159	chr4:28106963-28106964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574461813	chr4:28106964-28106965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61790960	chr4:28107036-28107037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577329622	chr4:28107066-28107067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539663593	chr4:28107086-28107087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532478269	chr4:28107138-28107139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150452763	chr4:28107202-28107203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138624653	chr4:28107243-28107244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530809974	chr4:28107258-28107259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78207573	chr4:28107259-28107260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190042945	chr4:28107287-28107288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536315678	chr4:28107371-28107372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553176442	chr4:28107378-28107379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35243084	chr4:28107397-28107398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146185226	chr4:28107431-28107432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2204609	chr4:28107460-28107461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575847386	chr4:28107463-28107464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137865599	chr4:28107464-28107465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114670813	chr4:28107481-28107482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374146100	chr4:28107501-28107502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540309599	chr4:28107588-28107589	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28106200-28108800	Enhancers	HepG2	liver
2	chr4:28114600-28114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:28114800-28118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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