Variant report

Variant	nsv879835
Chromosome Location	chr4:118545387-118622573
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:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118559839-118566258..4:118659345-118667424	GM12878	blood:
2	4:118558912-118559839..4:118559839-118566258	Hela-S3	cervix:
3	4:118327401-118331084..4:118559839-118566258	GM12878	blood:
4	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
5	4:118383653-118385442..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
6	4:118319405-118319911..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
7	4:118428948-118429401..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
8	4:118301798-118302725..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
9	4:118499433-118507619..4:118559839-118566258	K562	blood:
10	4:118558912-118559839..4:118559839-118566258	Hela-S3	cervix:
11	4:118334763-118353595..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
12	4:118291537-118294071..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
13	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
14	4:118357351-118360885..4:118559839-118566258	GM12878	blood:
15	4:118357351-118360885..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
16	4:118320200-118324249..4:118559839-118566258	GM12878	blood:
17	4:118559839-118566258..4:118706981-118715929	Hela-S3	cervix:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-4	chr4:118575962-118576065	ENSG00000236922.5
2	lnc-NDST3-8	chr4:118569000-118569087	NONHSAT097964
3	lnc-NDST3-4	chr4:118610091-118610279	ENSG00000236922.5
4	lnc-NDST3-8	chr4:118569311-118569371	NONHSAT097964
5	lnc-NDST3-4	chr4:118610091-118612343	ENSG00000236922.5
6	lnc-NDST3-4	chr4:118575962-118576065	ENSG00000236922.5

No data

Variant related genes	Relation type
ENSG00000236922	chromatin interactions

Extended variants
information (count: 1428 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1428 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948223	chr4:118545387-118545388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555816100	chr4:118545395-118545396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575556459	chr4:118545454-118545455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544386173	chr4:118545508-118545509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564651576	chr4:118545523-118545524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578020565	chr4:118545545-118545546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540450539	chr4:118545562-118545563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560283442	chr4:118545594-118545595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576583202	chr4:118545605-118545606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34224760	chr4:118545626-118545627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189586335	chr4:118545636-118545637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549224141	chr4:118545647-118545648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561529254	chr4:118545652-118545653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530573538	chr4:118545686-118545687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17865338	chr4:118545708-118545709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9995226	chr4:118545716-118545717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142477127	chr4:118545730-118545731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2220496	chr4:118545737-118545738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557447540	chr4:118545752-118545753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183869096	chr4:118545769-118545770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535759518	chr4:118545861-118545862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188595522	chr4:118545912-118545913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575448394	chr4:118545956-118545957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370405902	chr4:118545984-118545985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372291519	chr4:118546009-118546010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543718321	chr4:118546026-118546027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538280826	chr4:118546036-118546037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181396000	chr4:118546063-118546064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17866750	chr4:118546073-118546074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540293873	chr4:118546196-118546197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539872515	chr4:118546238-118546239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7696373	chr4:118546244-118546245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs973824	chr4:118546262-118546263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374079704	chr4:118546263-118546264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573848681	chr4:118546285-118546286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2635300	chr4:118546372-118546373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563236478	chr4:118546381-118546382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529132679	chr4:118546389-118546390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531897063	chr4:118546409-118546410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112452906	chr4:118546419-118546420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185876935	chr4:118546431-118546432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563899707	chr4:118546437-118546438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533077176	chr4:118546487-118546488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546679153	chr4:118546502-118546503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542909672	chr4:118546554-118546555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151242448	chr4:118546568-118546569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529150839	chr4:118546577-118546578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28945374	chr4:118546584-118546585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191952275	chr4:118546640-118546641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182556901	chr4:118546642-118546643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118543200-118557400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:118557400-118558000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:118557400-118558000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:118558000-118559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:118558600-118559000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:118559000-118574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:118559600-118559800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:118559800-118560200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:118560200-118560600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:118561600-118563200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:118575000-118575600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:118575400-118575800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr4:118582000-118582200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:118582800-118583000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:118585400-118586800	Enhancers	Dnd41	blood
16	chr4:118595000-118595400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:118600200-118600400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:118600200-118600600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:118600200-118600600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:118600200-118600600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:118600200-118600600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:118620800-118621400	Enhancers	Dnd41	blood

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