Variant report

Variant	nsv879936
Chromosome Location	chr4:130941492-130981535
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:1)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130964047..130965735-chr4:130986640..130988918,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-5	chr4:130948256-130948297	NONHSAT098302
2	lnc-C4orf33-6	chr4:130977976-130978030	ucscGeneNc_uc003igw_1
3	lnc-C4orf33-6	chr4:130943597-130943720	ucscGeneNc_uc003igw_1
4	lnc-C4orf33-6	chr4:130965945-130966057	ucscGeneNc_uc003igw_1
5	lnc-C4orf33-6	chr4:130974815-130974929	ucscGeneNc_uc003igw_1
6	lnc-C4orf33-6	chr4:130947609-130947753	ucscGeneNc_uc003igw_1
7	lnc-C4orf33-6	chr4:130953267-130953365	ucscGeneNc_uc003igw_1
8	lnc-C4orf33-5	chr4:130951771-130951912	NONHSAT098302
9	lnc-C4orf33-6	chr4:130954279-130954390	ucscGeneNc_uc003igw_1
10	lnc-C4orf33-6	chr4:130952607-130952670	ucscGeneNc_uc003igw_1
11	lnc-C4orf33-5	chr4:130947792-130947924	NONHSAT098302

No data

Extended variants
information (count: 1525 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13434961	chr4:130941492-130941493	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150592768	chr4:130941513-130941514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77675400	chr4:130941541-130941542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549810769	chr4:130941552-130941553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532906957	chr4:130941556-130941557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372017342	chr4:130941578-130941579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551530245	chr4:130941597-130941598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193220874	chr4:130941637-130941638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60531364	chr4:130941694-130941695	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550407897	chr4:130941731-130941732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184436404	chr4:130941735-130941736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139242664	chr4:130941746-130941747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535797516	chr4:130941757-130941758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189571183	chr4:130941811-130941812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572380223	chr4:130941850-130941851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80060089	chr4:130941852-130941853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557875820	chr4:130941869-130941870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576116781	chr4:130941922-130941923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543469050	chr4:130941927-130941928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180779645	chr4:130941975-130941976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573751595	chr4:130941976-130941977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185625668	chr4:130941987-130941988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559576586	chr4:130941994-130941995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532835806	chr4:130942005-130942006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531840510	chr4:130942007-130942008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77880724	chr4:130942023-130942024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188533002	chr4:130942029-130942030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549068674	chr4:130942033-130942034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568574642	chr4:130942044-130942045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529471185	chr4:130942059-130942060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547805385	chr4:130942062-130942063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78660396	chr4:130942095-130942096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111533730	chr4:130942140-130942141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557741167	chr4:130942141-130942142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569669058	chr4:130942164-130942165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376210574	chr4:130942174-130942175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144223846	chr4:130942239-130942240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371514309	chr4:130942242-130942243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573788979	chr4:130942261-130942262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74542039	chr4:130942298-130942299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553031843	chr4:130942301-130942302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554686567	chr4:130942389-130942390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577877519	chr4:130942402-130942403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77419768	chr4:130942425-130942426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111817163	chr4:130942427-130942428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536082150	chr4:130942429-130942430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6832154	chr4:130942446-130942447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72616379	chr4:130942452-130942453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140103514	chr4:130942493-130942494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557601248	chr4:130942517-130942518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130932600-130945000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:130941000-130941800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr4:130941200-130941600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr4:130941400-130945000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:130941600-130943400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:130941800-130945000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:130942000-130943200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:130943000-130947200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:130943200-130952600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:130943400-130943600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:130943400-130943600	Enhancers	Ovary	ovary
12	chr4:130943400-130945600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:130943400-130947000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:130943400-130947400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:130943600-130952600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:130943800-130945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:130944000-130944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:130944000-130945600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:130944200-130945000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:130944400-130944800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:130944800-130945200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:130945000-130945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:130945000-130945600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:130945000-130945600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:130945000-130945600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:130945000-130946400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:130945000-130950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:130945200-130945400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:130945200-130945400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:130945200-130946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:130945400-130946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:130945400-130947400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:130945400-130949800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:130945600-130946000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:130945600-130946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:130945600-130946000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:130945600-130946000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:130945600-130946000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:130946000-130946400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:130946000-130946600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:130946000-130946600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:130946000-130947000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:130946000-130950400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:130946000-130951800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:130946400-130946600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:130946400-130946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:130946400-130947000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:130946600-130947400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:130946600-130947800	Enhancers	Dnd41	blood
50	chr4:130946600-130949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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