Variant report

Variant	nsv967998
Chromosome Location	chr4:78301212-78311035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78306302..78306941-chr4:78521930..78522730,3	MCF-7	breast:
2	chr4:78306484..78307565-chr4:78351707..78352604,5	MCF-7	breast:
3	chr4:78306158..78306757-chr4:78339536..78340194,2	MCF-7	breast:
4	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:
5	chr4:78306456..78307324-chr4:78354247..78354761,2	K562	blood:
6	chr4:78306262..78307241-chr4:78353866..78354908,3	MCF-7	breast:
7	chr4:78306138..78307360-chr4:78339239..78340037,9	MCF-7	breast:
8	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
9	chr4:78306562..78308497-chr4:78334856..78338257,3	MCF-7	breast:
10	chr4:78306597..78307214-chr4:78394387..78394937,2	K562	blood:
11	chr4:78306282..78306818-chr4:78539506..78540132,2	MCF-7	breast:
12	chr4:78306279..78307489-chr4:78353325..78355121,9	MCF-7	breast:
13	chr4:78306259..78307081-chr4:78539517..78540020,2	K562	blood:
14	chr4:78307066..78309627-chr4:78338398..78341247,3	MCF-7	breast:
15	chr4:78306285..78307276-chr4:78351745..78352760,5	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNG2-1	chr4:78305791-78305921	NONHSAT097050

No data

Extended variants
information (count: 420 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369864595	chr4:78301227-78301228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568746100	chr4:78301253-78301254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1962351	chr4:78301274-78301275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564666325	chr4:78301283-78301284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530493208	chr4:78301300-78301301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550174213	chr4:78301359-78301360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560505030	chr4:78301360-78301361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1962168	chr4:78301381-78301382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371195941	chr4:78301390-78301391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72864739	chr4:78301413-78301414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376813742	chr4:78301631-78301632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199690161	chr4:78301633-78301634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7695052	chr4:78301634-78301635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11418680	chr4:78301635-78301636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34212411	chr4:78301636-78301637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201963001	chr4:78301662-78301663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2903237	chr4:78301672-78301673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539116824	chr4:78301675-78301676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35624020	chr4:78301692-78301693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560145608	chr4:78301699-78301700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34684804	chr4:78301709-78301710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113679188	chr4:78301711-78301712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556335495	chr4:78301713-78301714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13124662	chr4:78301729-78301730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57821492	chr4:78301735-78301736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555005913	chr4:78301738-78301739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527322599	chr4:78301782-78301783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7674431	chr4:78301796-78301797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35828577	chr4:78301802-78301803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182880146	chr4:78301814-78301815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7695467	chr4:78301815-78301816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74570761	chr4:78301835-78301836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36080531	chr4:78301840-78301841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35375768	chr4:78301842-78301843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58194605	chr4:78301860-78301861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575002595	chr4:78301862-78301863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139836931	chr4:78301863-78301864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35736209	chr4:78301879-78301880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35319190	chr4:78301884-78301885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35885907	chr4:78301893-78301894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35221195	chr4:78301895-78301896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187514732	chr4:78301921-78301922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34304090	chr4:78301926-78301927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529731836	chr4:78301929-78301930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4859830	chr4:78301997-78301998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55905288	chr4:78302020-78302021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs57104380	chr4:78302036-78302037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560068627	chr4:78302108-78302109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148150164	chr4:78302119-78302120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372327276	chr4:78302120-78302121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78298400-78306800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:78300600-78306200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:78306200-78308200	Enhancers	Fetal Intestine Small	intestine
4	chr4:78306400-78307000	Enhancers	Fetal Muscle Leg	muscle
5	chr4:78306400-78307000	Enhancers	Fetal Thymus	thymus
6	chr4:78306800-78307000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:78306800-78308200	Enhancers	Fetal Intestine Large	intestine
8	chr4:78307000-78307200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:78307000-78308800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:78307000-78308800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:78307200-78308800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:78308200-78311200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:78308800-78309400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:78308800-78309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:78308800-78309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:78308800-78309800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:78308800-78310200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:78308800-78310400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:78309000-78309600	Enhancers	Psoas Muscle	Psoas
20	chr4:78309200-78309400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:78309200-78311800	Weak transcription	Aorta	Aorta
22	chr4:78309600-78310000	Weak transcription	Psoas Muscle	Psoas
23	chr4:78310000-78310400	Enhancers	Psoas Muscle	Psoas

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