Variant report

Variant	nsv437913
Chromosome Location	chr4:20562080-20563108
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	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7692811	chr4:20562080-20562081	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56263400	chr4:20562140-20562141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565451108	chr4:20562156-20562157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532748602	chr4:20562158-20562159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551382554	chr4:20562162-20562163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76773627	chr4:20562163-20562164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537788662	chr4:20562213-20562214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs80324730	chr4:20562264-20562265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528229489	chr4:20562317-20562318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567812734	chr4:20562333-20562334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535255537	chr4:20562375-20562376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553471055	chr4:20562406-20562407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56350231	chr4:20562426-20562427	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148787699	chr4:20562440-20562441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375833014	chr4:20562459-20562460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557376162	chr4:20562465-20562466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75632737	chr4:20562474-20562475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73801873	chr4:20562475-20562476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185655683	chr4:20562520-20562521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142469016	chr4:20562562-20562563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375621819	chr4:20562564-20562565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189337379	chr4:20562574-20562575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59662736	chr4:20562625-20562626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146886765	chr4:20562632-20562633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575025522	chr4:20562664-20562665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551079931	chr4:20562706-20562707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113192154	chr4:20562709-20562710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140784456	chr4:20562713-20562714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530426675	chr4:20562724-20562725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180913140	chr4:20562745-20562746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567977381	chr4:20562761-20562762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535215463	chr4:20562780-20562781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547244464	chr4:20562782-20562783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571769465	chr4:20562827-20562828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116490680	chr4:20562843-20562844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557186202	chr4:20562848-20562849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143209487	chr4:20562893-20562894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536263959	chr4:20562901-20562902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146694937	chr4:20562910-20562911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78966743	chr4:20562917-20562918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184010452	chr4:20562933-20562934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140201148	chr4:20562961-20562962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56036151	chr4:20563000-20563001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577770760	chr4:20563024-20563025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571153151	chr4:20563053-20563054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10516357	chr4:20563108-20563109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
15	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:20555400-20569200	Weak transcription	Osteobl	bone
18	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:20560800-20562200	Weak transcription	Fetal Lung	lung
26	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial
29	chr4:20562200-20563000	Strong transcription	Fetal Lung	lung
30	chr4:20562800-20563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:20563000-20565200	Weak transcription	Fetal Lung	lung

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