Variant report

Variant	nsv436480
Chromosome Location	chr5:177818872-177824505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:
2	chr5:177811102..177812638-chr5:177817501..177819406,2	K562	blood:
3	chr5:177811102..177814167-chr5:177815792..177819406,4	K562	blood:
4	chr5:177806047..177808844-chr5:177816962..177819431,2	K562	blood:
5	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386695447	chr5:177818895-177818896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111458323	chr5:177818896-177818897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55794309	chr5:177818900-177818901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201773162	chr5:177818901-177818902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573682472	chr5:177818918-177818919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12659358	chr5:177818919-177818920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2973738	chr5:177818930-177818931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533243459	chr5:177818931-177818932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551734999	chr5:177818940-177818941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147348220	chr5:177818954-177818955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139417267	chr5:177818985-177818986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549166276	chr5:177819008-177819009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568424445	chr5:177819041-177819042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4357053	chr5:177819064-177819065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574158332	chr5:177819093-177819094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547448982	chr5:177819105-177819106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370078345	chr5:177819120-177819121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75219192	chr5:177819121-177819122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115415831	chr5:177819126-177819127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57353104	chr5:177819137-177819138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4481359	chr5:177819140-177819141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543076409	chr5:177819194-177819195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368504547	chr5:177819212-177819213	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs149884257	chr5:177819228-177819229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs145042818	chr5:177819235-177819236	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs187853496	chr5:177819238-177819239	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs570715454	chr5:177819256-177819257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs148693454	chr5:177819294-177819295	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs573620243	chr5:177819298-177819299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs11738251	chr5:177819313-177819314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559376841	chr5:177819332-177819333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs192427725	chr5:177819341-177819342	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs545319189	chr5:177819356-177819357	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs573501419	chr5:177819370-177819371	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs142162139	chr5:177819405-177819406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530837992	chr5:177819460-177819461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548873527	chr5:177819473-177819474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561160317	chr5:177819486-177819487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572199226	chr5:177819521-177819522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529345072	chr5:177819531-177819532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185621150	chr5:177819551-177819552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565725341	chr5:177819594-177819595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188643061	chr5:177819597-177819598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545329824	chr5:177819627-177819628	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs539513189	chr5:177819628-177819629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs551364699	chr5:177819669-177819670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs192598279	chr5:177819670-177819671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs376676177	chr5:177819684-177819685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs184179468	chr5:177819702-177819703	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs537763931	chr5:177819723-177819724	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177809600-177820400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:177809800-177819400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:177811000-177821400	Enhancers	Fetal Thymus	thymus
4	chr5:177811600-177821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177813400-177820000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:177814400-177824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:177814600-177824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:177815200-177819800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:177815400-177819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:177815800-177819400	Weak transcription	Spleen	Spleen
11	chr5:177815800-177819400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:177817000-177821000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177817200-177820200	Enhancers	Fetal Stomach	stomach
14	chr5:177817200-177823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:177817400-177821200	Weak transcription	Right Ventricle	heart
16	chr5:177817600-177819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:177817600-177819600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:177817600-177819600	Enhancers	Fetal Muscle Leg	muscle
19	chr5:177817600-177821000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:177817600-177824000	Weak transcription	Left Ventricle	heart
21	chr5:177817800-177820800	Weak transcription	HSMMtube	muscle
22	chr5:177818000-177819800	Weak transcription	Fetal Lung	lung
23	chr5:177818400-177819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:177818600-177819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:177818600-177822000	Enhancers	Thymus	Thymus
26	chr5:177818800-177822000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:177819200-177819400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr5:177819200-177820200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:177819400-177820000	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:177819400-177820000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:177819400-177820400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:177819400-177820400	Enhancers	Spleen	Spleen
33	chr5:177819600-177819800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:177819600-177819800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:177819600-177820000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr5:177819600-177820400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:177819600-177821000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr5:177819800-177820000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:177819800-177820200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:177819800-177820200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:177819800-177820200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr5:177819800-177820400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:177819800-177820400	Enhancers	Fetal Lung	lung
44	chr5:177819800-177824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:177820000-177820200	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr5:177820000-177820400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr5:177820000-177820600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:177820000-177823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:177820200-177820400	Enhancers	Fetal Muscle Trunk	muscle
50	chr5:177820200-177821400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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