Variant report

Variant	nsv879003
Chromosome Location	chr4:47102993-47215939
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:47102874..47105061-chr4:47116101..47117878,2	K562	blood:
2	chr4:46939236..46940006-chr4:47124315..47124979,2	MCF-7	breast:
3	chr4:47102874..47105061-chr4:47116101..47117878,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP10D-2	chr4:47166847-47167245	l_2639_chr4:47160564-47167245_testes
2	lnc-ATP10D-2	chr4:47165941-47166102	l_2639_chr4:47160564-47167245_testes
3	lnc-ATP10D-2	chr4:47160565-47160809	l_2639_chr4:47160564-47167245_testes
4	lnc-ATP10D-2	chr4:47164263-47164397	l_2639_chr4:47160564-47167245_testes

No data

Extended variants
information (count: 2589 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199747416	chr4:47103616-47103617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140209634	chr4:47103630-47103631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377201656	chr4:47103707-47103708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150303024	chr4:47103736-47103737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563118084	chr4:47103772-47103773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115606332	chr4:47103852-47103853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138069242	chr4:47103858-47103859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566336430	chr4:47103877-47103878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568055366	chr4:47103902-47103903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539723243	chr4:47103963-47103964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185747822	chr4:47104014-47104015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570254172	chr4:47104104-47104105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149121310	chr4:47104119-47104120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143121036	chr4:47104134-47104135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532291965	chr4:47104197-47104198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548759428	chr4:47111608-47111609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34744303	chr4:47111675-47111676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567368633	chr4:47111761-47111762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28595484	chr4:47111823-47111824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184916663	chr4:47111826-47111827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570943529	chr4:47111839-47111840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188508439	chr4:47111882-47111883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548076490	chr4:47111927-47111928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113953951	chr4:47111931-47111932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142109562	chr4:47112015-47112016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575048396	chr4:47112023-47112024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181015973	chr4:47112033-47112034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12646531	chr4:47112117-47112118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555547768	chr4:47112177-47112178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574103559	chr4:47112186-47112187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112504584	chr4:47112196-47112197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189449604	chr4:47112203-47112204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533411224	chr4:47112248-47112249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545668746	chr4:47112259-47112260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199851246	chr4:47112295-47112296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10027905	chr4:47112296-47112297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530975929	chr4:47112320-47112321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540310834	chr4:47112338-47112339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10938469	chr4:47112360-47112361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182442860	chr4:47112418-47112419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370292420	chr4:47112543-47112544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187065123	chr4:47112618-47112619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56278524	chr4:47112653-47112654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570908474	chr4:47112716-47112717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191891258	chr4:47112776-47112777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183287459	chr4:47112792-47112793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551537939	chr4:47112810-47112811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563489639	chr4:47112838-47112839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375755543	chr4:47112860-47112861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556796878	chr4:47112904-47112905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47103600-47104200	Enhancers	Fetal Brain Female	brain
2	chr4:47103800-47104000	Enhancers	Osteobl	bone
3	chr4:47111600-47112200	Enhancers	Fetal Brain Male	brain
4	chr4:47112000-47112400	Enhancers	Fetal Lung	lung
5	chr4:47112200-47114400	Weak transcription	Fetal Brain Male	brain
6	chr4:47112400-47113200	Weak transcription	Fetal Lung	lung
7	chr4:47113200-47114400	Enhancers	Fetal Lung	lung
8	chr4:47114400-47114600	Enhancers	Fetal Brain Male	brain
9	chr4:47114400-47120600	Weak transcription	Fetal Lung	lung
10	chr4:47114600-47115000	Weak transcription	Fetal Brain Male	brain
11	chr4:47115000-47115200	Enhancers	Fetal Brain Male	brain
12	chr4:47115200-47120600	Weak transcription	Fetal Brain Male	brain
13	chr4:47118000-47119000	Enhancers	Fetal Heart	heart
14	chr4:47119000-47120200	Weak transcription	Fetal Heart	heart
15	chr4:47120200-47120800	Enhancers	Fetal Heart	heart
16	chr4:47120600-47120800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:47120600-47121000	Enhancers	Fetal Brain Male	brain
18	chr4:47120600-47121000	Enhancers	Fetal Lung	lung
19	chr4:47120800-47122600	Weak transcription	Fetal Heart	heart
20	chr4:47121000-47124600	Weak transcription	Fetal Lung	lung
21	chr4:47122600-47123000	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:47122600-47123400	Enhancers	Fetal Heart	heart
23	chr4:47122800-47123200	Enhancers	Right Ventricle	heart
24	chr4:47122800-47123400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:47123000-47124600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:47123400-47124600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:47124400-47125000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:47124600-47124800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:47124600-47124800	Enhancers	Hela-S3	cervix
30	chr4:47124600-47125000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:47124600-47125200	Enhancers	Adipose Nuclei	Adipose
32	chr4:47124600-47125200	Enhancers	Brain Angular Gyrus	brain
33	chr4:47124600-47125200	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:47124600-47125200	Enhancers	Brain Hippocampus Middle	brain
35	chr4:47124600-47125200	Enhancers	Fetal Intestine Small	intestine
36	chr4:47124600-47125200	Enhancers	Fetal Lung	lung
37	chr4:47124800-47125000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:47124800-47125200	Enhancers	Liver	Liver
39	chr4:47124800-47125200	Enhancers	Brain Substantia Nigra	brain
40	chr4:47124800-47125200	Enhancers	Fetal Kidney	kidney
41	chr4:47125000-47125200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:47134400-47134600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:47143800-47146800	Weak transcription	Fetal Heart	heart
44	chr4:47144800-47145600	Enhancers	GM12878-XiMat	blood
45	chr4:47145200-47145400	Enhancers	Brain Anterior Caudate	brain
46	chr4:47145600-47147000	Weak transcription	GM12878-XiMat	blood
47	chr4:47146000-47147000	Weak transcription	Brain Anterior Caudate	brain
48	chr4:47146800-47148000	Enhancers	Fetal Heart	heart
49	chr4:47147000-47147400	Enhancers	GM12878-XiMat	blood
50	chr4:47147000-47147800	Enhancers	Brain Anterior Caudate	brain

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