Variant report

Variant	nsv879023
Chromosome Location	chr4:56625468-56655788
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:0)
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	chr4:56631566..56634040-chr4:56636504..56638538,3	K562	blood:
2	chr4:56637771..56639865-chr4:56697633..56699417,2	MCF-7	breast:
3	chr4:56632143..56634650-chr4:56645244..56648181,2	K562	blood:
4	chr4:56631564..56634040-chr4:56635751..56638538,2	K562	blood:
5	chr4:56637542..56640482-chr4:56658130..56659977,2	K562	blood:
6	chr4:56649556..56651202-chr4:56652557..56654365,2	K562	blood:
7	chr4:56649556..56651202-chr4:56652557..56654365,2	K562	blood:
8	chr4:56632143..56634833-chr4:56645255..56648181,2	K562	blood:
9	chr4:56632143..56634650-chr4:56645244..56648181,2	K562	blood:
10	chr4:56632143..56634833-chr4:56645255..56648181,2	K562	blood:
11	chr4:56631564..56634040-chr4:56635751..56638538,2	K562	blood:
12	chr4:56631566..56634040-chr4:56636504..56638538,3	K562	blood:

No data

Extended variants
information (count: 663 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11725155	chr4:56625468-56625469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75260613	chr4:56625501-56625502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553008174	chr4:56625545-56625546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543322054	chr4:56625547-56625548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561285681	chr4:56625548-56625549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539686263	chr4:56625553-56625554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572884445	chr4:56625569-56625570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544954806	chr4:56625570-56625571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564749937	chr4:56625623-56625624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535910524	chr4:56625624-56625625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368627615	chr4:56625633-56625634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530669046	chr4:56625659-56625660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544109527	chr4:56625679-56625680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375782616	chr4:56625746-56625747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191718176	chr4:56625761-56625762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540516944	chr4:56625942-56625943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529837145	chr4:56625982-56625983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546505863	chr4:56626010-56626011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376360226	chr4:56626041-56626042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142167342	chr4:56626052-56626053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4241999	chr4:56626096-56626097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs77659437	chr4:56626150-56626151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571673920	chr4:56626219-56626220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573428032	chr4:56626239-56626240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571031508	chr4:56626279-56626280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181771966	chr4:56626363-56626364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114477235	chr4:56626445-56626446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567985454	chr4:56626462-56626463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550572058	chr4:56626466-56626467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536835674	chr4:56626550-56626551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4865032	chr4:56626592-56626593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572865806	chr4:56626606-56626607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538358052	chr4:56626629-56626630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150760457	chr4:56626633-56626634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574884780	chr4:56626637-56626638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543851974	chr4:56626677-56626678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11727229	chr4:56626714-56626715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10049523	chr4:56626725-56626726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187112279	chr4:56626728-56626729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75736050	chr4:56626731-56626732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528542869	chr4:56626745-56626746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566702191	chr4:56626776-56626777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551595977	chr4:56626790-56626791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191089569	chr4:56626845-56626846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182818749	chr4:56626924-56626925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558366926	chr4:56627065-56627066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56091138	chr4:56627090-56627091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186634315	chr4:56627100-56627101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13139039	chr4:56627154-56627155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139206809	chr4:56627164-56627165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	22183965	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56623600-56625800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:56624200-56625800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr4:56624800-56634200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:56625000-56634200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:56625000-56634200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:56625000-56634400	Weak transcription	Osteobl	bone
7	chr4:56625200-56628000	Weak transcription	Esophagus	oesophagus
8	chr4:56626000-56626200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:56628000-56628200	Enhancers	Esophagus	oesophagus
10	chr4:56628200-56629000	Weak transcription	Esophagus	oesophagus
11	chr4:56629000-56629200	Enhancers	Esophagus	oesophagus
12	chr4:56629200-56630400	Weak transcription	Esophagus	oesophagus
13	chr4:56630400-56630600	Enhancers	Esophagus	oesophagus
14	chr4:56631600-56634400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:56633200-56633400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:56633400-56634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:56634000-56634200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:56634000-56635000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:56634200-56634800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:56634200-56634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:56634200-56635000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:56634200-56635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:56634200-56635000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:56634200-56635400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:56634200-56635400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:56634200-56635400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:56634400-56634600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:56634400-56634800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:56634400-56634800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:56634400-56634800	Enhancers	HSMM	muscle
31	chr4:56634400-56634800	Enhancers	NHEK	skin
32	chr4:56634400-56635000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:56634400-56635000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:56634400-56635000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:56634400-56635000	Enhancers	HMEC	breast
36	chr4:56634400-56635000	Enhancers	NH-A	brain
37	chr4:56634400-56635000	Enhancers	Osteobl	bone
38	chr4:56634400-56635200	Enhancers	NHDF-Ad	bronchial
39	chr4:56634400-56635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:56634400-56635600	Enhancers	HUVEC	blood vessel
41	chr4:56634400-56635800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:56634600-56634800	Enhancers	HSMMtube	muscle
43	chr4:56634600-56635000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:56634600-56635000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:56634600-56635000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:56634600-56635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:56634600-56635000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:56634800-56635200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:56634800-56635200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:56635000-56638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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