Variant report

Variant	esv3322045
Chromosome Location	chr4:56486345-56492043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56479641..56482011-chr4:56491746..56493328,2	K562	blood:
2	chr4:56479641..56481239-chr4:56491828..56493480,2	K562	blood:
3	chr4:56469856..56472454-chr4:56489855..56491752,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533996763	chr4:56486552-56486553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199821398	chr4:56486558-56486559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558951724	chr4:56486570-56486571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544648099	chr4:56486574-56486575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562456421	chr4:56486612-56486613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370440405	chr4:56486653-56486654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374112150	chr4:56486684-56486685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367651412	chr4:56486727-56486728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201146909	chr4:56486863-56486864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370288083	chr4:56486895-56486896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374409079	chr4:56486949-56486950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368550269	chr4:56486956-56486957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202107205	chr4:56486978-56486979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372813757	chr4:56487207-56487208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375461532	chr4:56487250-56487251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368385219	chr4:56487278-56487279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372014107	chr4:56487288-56487289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376915425	chr4:56487347-56487348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200462099	chr4:56487362-56487363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200905789	chr4:56487444-56487445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144289701	chr4:56487693-56487694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548231086	chr4:56488101-56488102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200269280	chr4:56488114-56488115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201473145	chr4:56488696-56488697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199775600	chr4:56489410-56489411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200204009	chr4:56489675-56489676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71627120	chr4:56489689-56489690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369526934	chr4:56490107-56490108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371298615	chr4:56490181-56490182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201563796	chr4:56490202-56490203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112357776	chr4:56490208-56490209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567758229	chr4:56490273-56490274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536311021	chr4:56490280-56490281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547234503	chr4:56490310-56490311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567046474	chr4:56490337-56490338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577843017	chr4:56490418-56490419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539373290	chr4:56490426-56490427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559292508	chr4:56490432-56490433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575964746	chr4:56490433-56490434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537860052	chr4:56490444-56490445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200703922	chr4:56490629-56490630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201351986	chr4:56490638-56490639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112471734	chr4:56490769-56490770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111746309	chr4:56490832-56490833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369760081	chr4:56490843-56490844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374094100	chr4:56490848-56490849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531170625	chr4:56490954-56490955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200542136	chr4:56491092-56491093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7655503	chr4:56491125-56491126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538457408	chr4:56491216-56491217	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
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56473600-56491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:56478200-56491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:56484200-56491600	Weak transcription	K562	blood
4	chr4:56485200-56487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:56485200-56491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:56485400-56491800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:56485400-56491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:56485400-56498000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:56485400-56498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:56489400-56493800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:56489400-56498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:56489800-56498200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:56491400-56492200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:56491600-56492400	ZNF genes & repeats	K562	blood
15	chr4:56491600-56492600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:56491600-56496200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:56491800-56492200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr4:56491800-56493400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:56492000-56492200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:56492000-56492200	Enhancers	Esophagus	oesophagus
21	chr4:56492000-56496400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links