Variant report

Variant	esv1800961
Chromosome Location	chr4:95026709-95039877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPGDS-1	chr4:95038943-95039252	ENSG00000246541

Variant related genes	Relation type
ZNF689	miRNA target sites

Extended variants
information (count: 153 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560890218	chr4:95035247-95035248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529836967	chr4:95035277-95035278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549593914	chr4:95035280-95035281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562826809	chr4:95035297-95035298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76911419	chr4:95035345-95035346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112051203	chr4:95035402-95035403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371918960	chr4:95035465-95035466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79313542	chr4:95035511-95035512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534226347	chr4:95035528-95035529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184082852	chr4:95035584-95035585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567985641	chr4:95035635-95035636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536824628	chr4:95035644-95035645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5860356	chr4:95035651-95035652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs33953705	chr4:95035652-95035653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3066138	chr4:95035654-95035655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556731675	chr4:95035718-95035719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5019896	chr4:95035751-95035752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17373678	chr4:95035771-95035772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115072497	chr4:95035787-95035788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10023582	chr4:95035811-95035812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115904272	chr4:95035833-95035834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371786483	chr4:95035835-95035836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141353949	chr4:95035850-95035851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545749933	chr4:95035871-95035872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574426953	chr4:95035963-95035964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187772985	chr4:95035983-95035984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540653159	chr4:95036039-95036040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115902474	chr4:95036083-95036084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563500008	chr4:95036121-95036122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76636971	chr4:95036185-95036186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200038381	chr4:95036186-95036187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75906325	chr4:95036187-95036188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76562577	chr4:95036188-95036189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397994563	chr4:95036203-95036204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150356641	chr4:95036210-95036211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191924502	chr4:95036234-95036235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112703142	chr4:95036263-95036264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564241922	chr4:95036268-95036269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138077259	chr4:95036377-95036378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149547899	chr4:95036381-95036382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552730018	chr4:95036394-95036395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569397724	chr4:95036415-95036416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567924212	chr4:95036420-95036421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530441279	chr4:95036464-95036465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184392398	chr4:95036489-95036490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117054400	chr4:95036500-95036501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186903679	chr4:95036548-95036549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1472984	chr4:95036553-95036554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35568170	chr4:95036564-95036565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76972311	chr4:95036578-95036579	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95035200-95039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:95036600-95037200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:95037800-95038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:95038000-95038800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:95038000-95039000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:95038000-95039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:95038000-95039200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:95038200-95039000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:95038400-95039400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:95038600-95038800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95038800-95042200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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