Variant report

Variant	nsv997267
Chromosome Location	chr4:45524521-45703126
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:1)
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
1	chr4:45673773..45677546-chr4:45677807..45681243,3	K562	blood:
2	chr4:45673773..45677546-chr4:45677807..45681243,3	K562	blood:
3	chr4:45628847..45630417-chr4:45644290..45647231,2	K562	blood:
4	chr4:45628847..45630417-chr4:45644290..45647231,2	K562	blood:
5	chr4:45552524..45553420-chr4:45743730..45744526,2	MCF-7	breast:
6	chr4:45669935..45671477-chr4:46083699..46086556,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRG1-4	chr4:45683337-45685041	NONHSAT096238

No data

Extended variants
information (count: 2435 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2435 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548394746	chr4:45526045-45526046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560341026	chr4:45526050-45526051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188545353	chr4:45526059-45526060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371982001	chr4:45526069-45526070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs13140489	chr4:45526077-45526078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181045260	chr4:45526104-45526105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534481755	chr4:45526108-45526109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538247971	chr4:45526146-45526147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550567691	chr4:45526177-45526178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs151061923	chr4:45526179-45526180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536579556	chr4:45526218-45526219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554790598	chr4:45526219-45526220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560575210	chr4:45526229-45526230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28609372	chr4:45526238-45526239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114953898	chr4:45526241-45526242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558625267	chr4:45526259-45526260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184813912	chr4:45526262-45526263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376043184	chr4:45526269-45526270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375435210	chr4:45526288-45526289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562812586	chr4:45526292-45526293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10005247	chr4:45526295-45526296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370106036	chr4:45526296-45526297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10015533	chr4:45526328-45526329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546308310	chr4:45526361-45526362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150188458	chr4:45526378-45526379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560305727	chr4:45526382-45526383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527934770	chr4:45526391-45526392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189320068	chr4:45526397-45526398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180960625	chr4:45526419-45526420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531579247	chr4:45526425-45526426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187284632	chr4:45526434-45526435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544283323	chr4:45526470-45526471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568499414	chr4:45526512-45526513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536539309	chr4:45526517-45526518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548548512	chr4:45526518-45526519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566620334	chr4:45526543-45526544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533998364	chr4:45526552-45526553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558337147	chr4:45526553-45526554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532601687	chr4:45526564-45526565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191192963	chr4:45526615-45526616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537573143	chr4:45526658-45526659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16858617	chr4:45526705-45526706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28497622	chr4:45526745-45526746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542114832	chr4:45526747-45526748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554047211	chr4:45526773-45526774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372653483	chr4:45526808-45526809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181586528	chr4:45526915-45526916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537001188	chr4:45526947-45526948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546399738	chr4:45526957-45526958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185908507	chr4:45526978-45526979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45526000-45526200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:45526200-45532200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:45532200-45532600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:45532200-45532800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:45550800-45551400	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:45553000-45553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:45553800-45554400	Enhancers	Fetal Lung	lung
8	chr4:45554400-45557800	Weak transcription	Fetal Lung	lung
9	chr4:45556400-45557400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:45556600-45557400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:45557000-45557400	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:45557000-45558000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:45557200-45557600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:45557200-45557800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:45557200-45558000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:45557400-45557800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:45557400-45558000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:45557800-45558000	Enhancers	Fetal Lung	lung
19	chr4:45566600-45567400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:45567000-45567400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:45581000-45582800	Enhancers	Fetal Heart	heart
22	chr4:45582000-45582600	Enhancers	Fetal Lung	lung
23	chr4:45582400-45585200	Enhancers	Stomach Mucosa	stomach
24	chr4:45582800-45583200	Weak transcription	Fetal Heart	heart
25	chr4:45583200-45583600	Enhancers	Fetal Heart	heart
26	chr4:45602600-45603800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:45602600-45603800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:45603000-45603200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:45603000-45603400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:45603000-45603800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:45603400-45603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:45603400-45604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:45603600-45604200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:45603800-45604200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:45603800-45604200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:45603800-45604200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:45604200-45605000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:45604200-45605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:45604200-45605600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:45604200-45605800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:45604200-45607000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:45604400-45604600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:45604400-45605600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:45604600-45605200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:45605000-45605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:45605200-45605400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:45605400-45606600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:45605600-45605800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:45605600-45606600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:45606800-45607000	Enhancers	HUES48 Cell Line	embryonic stem cell

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