Variant report

Variant	nsv879833
Chromosome Location	chr4:118510812-118556306
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118357351-118360885..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
2	4:118301798-118302725..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
3	chr4:118534295..118536830-chr4:118537858..118539469,2	K562	blood:
4	chr4:118534295..118536830-chr4:118537858..118539469,2	K562	blood:
5	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
6	4:118428948-118429401..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo

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

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

No data

Extended variants
information (count: 734 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17863870	chr4:118512999-118513000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs548452238	chr4:118513000-118513001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562370329	chr4:118513007-118513008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs181344079	chr4:118513033-118513034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551281449	chr4:118513080-118513081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs185818433	chr4:118513102-118513103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs141612142	chr4:118513121-118513122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552268240	chr4:118513166-118513167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563432190	chr4:118513207-118513208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs565601179	chr4:118513221-118513222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs13135130	chr4:118513265-118513266	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs554516602	chr4:118513307-118513308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs17867508	chr4:118513308-118513309	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs536980421	chr4:118513325-118513326	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs34078996	chr4:118518406-118518407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550595525	chr4:118518423-118518424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149989891	chr4:118518522-118518523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28422498	chr4:118518523-118518524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532570948	chr4:118518574-118518575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552851579	chr4:118518583-118518584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539680268	chr4:118518592-118518593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1387529	chr4:118518598-118518599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377423302	chr4:118518599-118518600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188841764	chr4:118518609-118518610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145230368	chr4:118518641-118518642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529147887	chr4:118518649-118518650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193077970	chr4:118518672-118518673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536386950	chr4:118518732-118518733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556271317	chr4:118518737-118518738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71608320	chr4:118518766-118518767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28945112	chr4:118518831-118518832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143526323	chr4:118518850-118518851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558818037	chr4:118518864-118518865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535285745	chr4:118518891-118518892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572297390	chr4:118518902-118518903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540918053	chr4:118518912-118518913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530245279	chr4:118518945-118518946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28944779	chr4:118518946-118518947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560982647	chr4:118518958-118518959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574474159	chr4:118518960-118518961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543533726	chr4:118518989-118518990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563598905	chr4:118519004-118519005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532746776	chr4:118519005-118519006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17870037	chr4:118519087-118519088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77199915	chr4:118519094-118519095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2635191	chr4:118519146-118519147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528821135	chr4:118519213-118519214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575363953	chr4:118519240-118519241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548883133	chr4:118519280-118519281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77087688	chr4:118519390-118519391	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118518400-118522400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:118518600-118520400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:118518600-118521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:118518800-118519800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:118519000-118519800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:118519000-118520200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:118519000-118520400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:118520400-118520800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:118520400-118520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:118520800-118521200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:118520800-118521600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:118531800-118532200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:118531800-118532600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:118531800-118532600	Enhancers	Fetal Heart	heart
15	chr4:118532000-118532400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:118532000-118532600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:118532200-118532600	ZNF genes & repeats	Stomach Mucosa	stomach
18	chr4:118543000-118543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:118543200-118557400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:118544600-118545000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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