Variant report

Variant	nsv879836
Chromosome Location	chr4:118551144-118587270
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:4)
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	4:118499433-118507619..4:118559839-118566258	K562	blood:
2	4:118320200-118324249..4:118559839-118566258	GM12878	blood:
3	4:118383653-118385442..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
4	4:118319405-118319911..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
5	4:118559839-118566258..4:118706981-118715929	Hela-S3	cervix:
6	4:118558912-118559839..4:118559839-118566258	Hela-S3	cervix:
7	4:118559839-118566258..4:118659345-118667424	GM12878	blood:
8	4:118301798-118302725..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
9	4:118334763-118353595..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
10	4:118357351-118360885..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
11	4:118357351-118360885..4:118559839-118566258	GM12878	blood:
12	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
13	4:118558912-118559839..4:118559839-118566258	Hela-S3	cervix:
14	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
15	4:118428948-118429401..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
16	4:118327401-118331084..4:118559839-118566258	GM12878	blood:
17	4:118291537-118294071..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo

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

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

No data

Variant related genes	Relation type
ENSG00000236922	chromatin interactions

Extended variants
information (count: 1054 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948251	chr4:118551144-118551145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17866799	chr4:118551173-118551174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373429727	chr4:118551183-118551184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556863730	chr4:118551225-118551226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17863883	chr4:118551241-118551242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539717483	chr4:118551288-118551289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545331611	chr4:118551340-118551341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185505437	chr4:118551344-118551345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565026900	chr4:118551350-118551351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140809517	chr4:118551382-118551383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562255017	chr4:118551386-118551387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190217184	chr4:118551407-118551408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17862970	chr4:118551456-118551457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17864979	chr4:118551564-118551565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2932186	chr4:118551566-118551567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546839673	chr4:118551579-118551580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17875021	chr4:118551606-118551607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186651621	chr4:118551643-118551644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35653707	chr4:118551648-118551649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17865401	chr4:118551650-118551651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17865842	chr4:118551652-118551653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376733297	chr4:118551660-118551661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568183980	chr4:118551686-118551687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536715295	chr4:118551697-118551698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550817162	chr4:118551723-118551724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570613967	chr4:118551754-118551755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539753963	chr4:118551762-118551763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191713962	chr4:118551771-118551772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566651205	chr4:118551786-118551787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17867429	chr4:118551893-118551894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17866138	chr4:118551894-118551895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199921770	chr4:118551922-118551923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555458172	chr4:118551969-118551970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145233927	chr4:118551974-118551975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543207869	chr4:118552073-118552074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544348799	chr4:118552098-118552099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17869269	chr4:118552125-118552126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577860527	chr4:118552127-118552128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183487634	chr4:118552173-118552174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188882621	chr4:118552210-118552211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137902994	chr4:118552215-118552216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17864978	chr4:118552219-118552220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561468908	chr4:118552223-118552224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192505465	chr4:118552260-118552261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182191180	chr4:118552302-118552303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142436030	chr4:118552344-118552345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368068030	chr4:118552383-118552384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570552771	chr4:118552398-118552399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77706455	chr4:118552418-118552419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17867520	chr4:118552452-118552453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:15 , 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

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