Variant report

Variant	nsv1006366
Chromosome Location	chr4:92481747-92755677
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:
2	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
3	chr2:39076189..39078927-chr4:92754563..92756152,2	MCF-7	breast:
4	chr4:92539576..92542400-chr4:92543063..92544579,2	MCF-7	breast:
5	chr14:89306981..89307680-chr4:92635846..92636574,2	MCF-7	breast:
6	chr4:92522210..92524943-chr4:92527057..92528806,2	K562	blood:
7	chr4:92539576..92542400-chr4:92543063..92544579,2	MCF-7	breast:
8	chr4:92522210..92524943-chr4:92527057..92528806,2	K562	blood:
9	chr4:92733503..92735821-chr4:92736564..92739014,2	K562	blood:
10	chr4:92733503..92735821-chr4:92736564..92739014,2	K562	blood:
11	chr20:43379044..43379544-chr4:92594658..92595640,2	K562	blood:
12	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM190A-2	chr4:92524426-92526443	NONHSAT097419
2	lnc-FAM190A-3	chr4:92580174-92580494	NONHSAT097421
3	lnc-FAM190A-3	chr4:92580579-92581267	NONHSAT097421

No data

Variant related genes	Relation type
ENSG00000165533	chromatin interactions

Extended variants
information (count: 5810 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:5810 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372001019	chr4:92481769-92481770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528113842	chr4:92481816-92481817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548233006	chr4:92481869-92481870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552727135	chr4:92481909-92481910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568071182	chr4:92481920-92481921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531086836	chr4:92481925-92481926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550889383	chr4:92481958-92481959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73838046	chr4:92482002-92482003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148638455	chr4:92482036-92482037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7693738	chr4:92482074-92482075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564950576	chr4:92482082-92482083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369272529	chr4:92482091-92482092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566495783	chr4:92482155-92482156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372994531	chr4:92482170-92482171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535467846	chr4:92482217-92482218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555787845	chr4:92482223-92482224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372528880	chr4:92482232-92482233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187375180	chr4:92482237-92482238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78121622	chr4:92482246-92482247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544732241	chr4:92482331-92482332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574606626	chr4:92482341-92482342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74358666	chr4:92482342-92482343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369968973	chr4:92482343-92482344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2203636	chr4:92482383-92482384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577139457	chr4:92482438-92482439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190939315	chr4:92482519-92482520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369926828	chr4:92482602-92482603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77739757	chr4:92482622-92482623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146676750	chr4:92482644-92482645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541462885	chr4:92482653-92482654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561769487	chr4:92482685-92482686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550690985	chr4:92482770-92482771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550682296	chr4:92482781-92482782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570687421	chr4:92482782-92482783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114120532	chr4:92482843-92482844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546851605	chr4:92482850-92482851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140228119	chr4:92482912-92482913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536194310	chr4:92482941-92482942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373397066	chr4:92482950-92482951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555470389	chr4:92482958-92482959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78315210	chr4:92483028-92483029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546890102	chr4:92483036-92483037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569269614	chr4:92483039-92483040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144165597	chr4:92483087-92483088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546068231	chr4:92483134-92483135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377765868	chr4:92483146-92483147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558307335	chr4:92483148-92483149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577077191	chr4:92483161-92483162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539651781	chr4:92483167-92483168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13122545	chr4:92483188-92483189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92480000-92487000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:92487000-92487600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:92487600-92491000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:92488200-92490600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:92488400-92489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:92488400-92490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:92488600-92489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:92488800-92489400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:92488800-92490200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:92489000-92489400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:92489000-92490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:92489200-92489600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:92489400-92489600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:92489400-92490400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:92489600-92490400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:92489800-92490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:92490000-92490400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:92490000-92491600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr4:92490200-92490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:92490200-92490600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:92490200-92490600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:92490200-92491800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr4:92490400-92490600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:92490400-92491800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr4:92490400-92493000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:92490600-92490800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:92490600-92490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:92490600-92492000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr4:92490600-92495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:92490800-92492000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr4:92491000-92492000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:92492000-92492600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:92492600-92494000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:92493400-92498200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:92494000-92494800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:92494000-92498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:92497600-92498800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:92497600-92498800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:92497600-92503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:92497800-92499800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:92498000-92499800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:92498200-92499400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:92498200-92501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:92498400-92498600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:92498600-92499600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:92498800-92499400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:92498800-92499400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:92499200-92499400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:92499400-92500000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:92499400-92500800	Enhancers	HUES48 Cell Line	embryonic stem cell

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