Variant report

Variant	nsv879620
Chromosome Location	chr4:95012684-95049123
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:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:94712668..94713389-chr4:95048586..95049226,3	MCF-7	breast:
2	chr4:94712445..94713412-chr4:95047150..95048494,9	MCF-7	breast:
3	chr4:95041063..95042788-chr4:95044128..95046307,2	MCF-7	breast:
4	chr4:94631324..94632139-chr4:95048906..95049577,2	MCF-7	breast:
5	chr4:94818426..94818969-chr4:95048490..95049106,2	K562	blood:
6	chr4:95041063..95042788-chr4:95044128..95046307,2	MCF-7	breast:
7	chr4:94712548..94713256-chr4:95047502..95048048,2	K562	blood:
8	chr4:94712445..94713368-chr4:95047510..95048534,4	MCF-7	breast:
9	chr4:94818194..94819480-chr4:95047856..95049178,6	MCF-7	breast:
10	chr4:95048687..95051315-chr4:95128789..95130574,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPGDS-1	chr4:95038943-95039252	ENSG00000246541
2	lnc-HPGDS-1	chr4:95046052-95046193	ENSG00000246541
3	lnc-HPGDS-1	chr4:95039932-95040062	ENSG00000246541

No data

Variant related genes	Relation type
ENSG00000163104	chromatin interactions
SLC16A2	miRNA target sites
OFD1	miRNA target sites
ZNF689	miRNA target sites

Extended variants
information (count: 531 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116819390	chr4:95017807-95017808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543465652	chr4:95017817-95017818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201127448	chr4:95017820-95017821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556773852	chr4:95017868-95017869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75042161	chr4:95017897-95017898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377165154	chr4:95017900-95017901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12501371	chr4:95017903-95017904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79868151	chr4:95017910-95017911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145901877	chr4:95017921-95017922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12501436	chr4:95017940-95017941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376429751	chr4:95017943-95017944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547387979	chr4:95017952-95017953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561872435	chr4:95018000-95018001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555028608	chr4:95019422-95019423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141489163	chr4:95019481-95019482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556760978	chr4:95019492-95019493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558076216	chr4:95019497-95019498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs578033217	chr4:95019512-95019513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540409839	chr4:95019519-95019520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554046352	chr4:95019523-95019524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543226887	chr4:95019560-95019561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573225462	chr4:95019600-95019601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150770434	chr4:95019602-95019603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs899133	chr4:95019609-95019610	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113305697	chr4:95019620-95019621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563251668	chr4:95019655-95019656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs899134	chr4:95019675-95019676	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564435558	chr4:95019707-95019708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533473483	chr4:95019718-95019719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549044018	chr4:95019722-95019723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs138035776	chr4:95019779-95019780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367698376	chr4:95019791-95019792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78977723	chr4:95019795-95019796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560890218	chr4:95035247-95035248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529836967	chr4:95035277-95035278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549593914	chr4:95035280-95035281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562826809	chr4:95035297-95035298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76911419	chr4:95035345-95035346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112051203	chr4:95035402-95035403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371918960	chr4:95035465-95035466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79313542	chr4:95035511-95035512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534226347	chr4:95035528-95035529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184082852	chr4:95035584-95035585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567985641	chr4:95035635-95035636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536824628	chr4:95035644-95035645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs5860356	chr4:95035651-95035652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs33953705	chr4:95035652-95035653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3066138	chr4:95035654-95035655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556731675	chr4:95035718-95035719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5019896	chr4:95035751-95035752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95017800-95018000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:95019400-95019800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:95035200-95039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:95036600-95037200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:95037800-95038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:95038000-95038800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:95038000-95039000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:95038000-95039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:95038000-95039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:95038200-95039000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:95038400-95039400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:95038600-95038800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:95038800-95042200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:95042200-95042600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:95042600-95045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:95045000-95045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:95045400-95046600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:95046600-95047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:95047000-95054000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:95047800-95048000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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