Variant report

Variant	nsv537104
Chromosome Location	chr4:59467862-59602439
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:3)
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	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:
2	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-12	chr4:59535492-59535997	l_2652_chr4:59411765-59536344_testes
2	lnc-IGFBP7-12	chr4:59536417-59536488	l_2652_chr4:59411765-59536344_testes
3	lnc-IGFBP7-12	chr4:59535998-59536344	l_2652_chr4:59411765-59536344_testes

No data

Extended variants
information (count: 1536 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1536 , 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	rs146933938	chr4:59467949-59467950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201664506	chr4:59467958-59467959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540151299	chr4:59467989-59467990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17089475	chr4:59468022-59468023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184188634	chr4:59468045-59468046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147550634	chr4:59468104-59468105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7675645	chr4:59468158-59468159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533254522	chr4:59468183-59468184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551991989	chr4:59468195-59468196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188667401	chr4:59468207-59468208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370328941	chr4:59468211-59468212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527839894	chr4:59468248-59468249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549275301	chr4:59468254-59468255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567584528	chr4:59468287-59468288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141959480	chr4:59468290-59468291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147124724	chr4:59468356-59468357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568966268	chr4:59468380-59468381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539148905	chr4:59468385-59468386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374333363	chr4:59468398-59468399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557977009	chr4:59468399-59468400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1509057	chr4:59468412-59468413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533942915	chr4:59468419-59468420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17089476	chr4:59468465-59468466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368699216	chr4:59468471-59468472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17089477	chr4:59468494-59468495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371061633	chr4:59468502-59468503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567675238	chr4:59468509-59468510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547327960	chr4:59468511-59468512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544654694	chr4:59468553-59468554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562742381	chr4:59468592-59468593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528435557	chr4:59468653-59468654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374542228	chr4:59468673-59468674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578084399	chr4:59468675-59468676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11935212	chr4:59468689-59468690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2642165	chr4:59468711-59468712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149199316	chr4:59468770-59468771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542784581	chr4:59468849-59468850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181057957	chr4:59468858-59468859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531866839	chr4:59468913-59468914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185896785	chr4:59468967-59468968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73195491	chr4:59469059-59469060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568755230	chr4:59469130-59469131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79449836	chr4:59469148-59469149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118095160	chr4:59469155-59469156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571435139	chr4:59469246-59469247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7658382	chr4:59469262-59469263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371560253	chr4:59469269-59469270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148327007	chr4:59469305-59469306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12646034	chr4:59469307-59469308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567608236	chr4:59469323-59469324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59463400-59469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:59465400-59469400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:59465600-59469600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:59465800-59470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:59466600-59468200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:59467000-59468200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:59467000-59468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:59467200-59468400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:59467200-59470400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:59467600-59468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:59468200-59469800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:59468200-59470600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:59468400-59470800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:59468600-59470400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:59469400-59469600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:59469600-59470000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:59469800-59470200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:59470000-59470400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:59470200-59470800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:59470400-59471000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:59470400-59471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:59471200-59471600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:59471400-59471600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:59481800-59482000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:59482000-59490000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:59485600-59487200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:59486200-59487800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:59496000-59496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:59504800-59506200	Enhancers	Fetal Intestine Large	intestine
30	chr4:59505000-59505200	Enhancers	A549	lung
31	chr4:59505200-59505400	Flanking Active TSS	A549	lung
32	chr4:59505400-59506000	Active TSS	A549	lung
33	chr4:59511600-59512400	Active TSS	Fetal Intestine Large	intestine
34	chr4:59511800-59512400	Active TSS	Fetal Intestine Small	intestine
35	chr4:59512400-59512600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:59512600-59513000	Enhancers	Fetal Intestine Small	intestine
37	chr4:59512600-59513400	Enhancers	Fetal Intestine Large	intestine
38	chr4:59522800-59523000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:59522800-59523200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:59524400-59525200	Enhancers	Brain Germinal Matrix	brain
41	chr4:59524400-59525200	Enhancers	Brain Hippocampus Middle	brain
42	chr4:59528600-59529400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:59529400-59531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:59531000-59531400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:59531000-59534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:59531400-59535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:59532200-59532600	Enhancers	Gastric	stomach
48	chr4:59534400-59534800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:59534400-59535200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:59534400-59535200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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