Variant report

Variant	nsv879832
Chromosome Location	chr4:118502728-118536051
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118499433-118507619..4:118559839-118566258	K562	blood:
2	chr4:118534295..118536830-chr4:118537858..118539469,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-9	chr4:118512196-118512266	NONHSAT097963
2	lnc-NDST3-9	chr4:118512935-118513347	l_2711_chr4:118501151-118513199_testes
3	lnc-NDST3-9	chr4:118512196-118512266	l_2711_chr4:118501151-118513199_testes
4	lnc-NDST3-9	chr4:118512968-118513339	NONHSAT097963

No data

Extended variants
information (count: 287 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17869322	chr4:118508802-118508803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17869571	chr4:118508805-118508806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17866122	chr4:118508890-118508891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150041432	chr4:118509002-118509003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17868686	chr4:118509027-118509028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145388415	chr4:118509054-118509055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373861234	chr4:118509082-118509083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376247882	chr4:118509109-118509110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549031081	chr4:118509111-118509112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569137582	chr4:118509187-118509188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3051557	chr4:118509260-118509261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66612742	chr4:118509261-118509262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145602780	chr4:118509270-118509271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190867953	chr4:118509279-118509280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5861360	chr4:118509286-118509287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527636759	chr4:118509297-118509298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28716938	chr4:118509365-118509366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28515478	chr4:118509366-118509367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551753095	chr4:118509374-118509375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547562692	chr4:118509380-118509381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397844141	chr4:118509398-118509399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17867272	chr4:118509399-118509400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554221330	chr4:118509483-118509484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529918701	chr4:118509494-118509495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186601483	chr4:118509495-118509496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13106907	chr4:118509516-118509517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192220471	chr4:118509598-118509599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556590345	chr4:118509645-118509646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576284724	chr4:118509719-118509720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377635774	chr4:118509726-118509727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545295758	chr4:118509761-118509762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532515063	chr4:118509772-118509773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17865940	chr4:118509798-118509799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577202188	chr4:118509835-118509836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552334933	chr4:118509844-118509845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111282739	chr4:118509853-118509854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560165807	chr4:118509902-118509903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376005501	chr4:118509933-118509934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529094772	chr4:118509945-118509946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201635913	chr4:118509959-118509960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549119183	chr4:118509981-118509982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11098396	chr4:118509982-118509983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182920587	chr4:118510001-118510002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144570694	chr4:118510011-118510012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370078676	chr4:118510012-118510013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17867271	chr4:118510063-118510064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534173266	chr4:118510078-118510079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28945111	chr4:118510086-118510087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549903356	chr4:118510093-118510094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs36051836	chr4:118510117-118510118	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118508800-118509200	Enhancers	Fetal Brain Female	brain
2	chr4:118508800-118510200	Enhancers	Fetal Brain Male	brain
3	chr4:118518400-118522400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:118518600-118520400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:118518600-118521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:118518800-118519800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:118519000-118519800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:118519000-118520200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr4:118519000-118520400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:118520400-118520800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:118520400-118520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:118520800-118521200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:118520800-118521600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:118531800-118532200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:118531800-118532600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:118531800-118532600	Enhancers	Fetal Heart	heart
17	chr4:118532000-118532400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:118532000-118532600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:118532200-118532600	ZNF genes & repeats	Stomach Mucosa	stomach

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