Variant report

Variant	nsv513279
Chromosome Location	chr5:177790332-177792470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177777429..177779459-chr5:177792254..177794069,2	MCF-7	breast:
2	chr5:177784139..177785777-chr5:177788896..177791858,2	K562	blood:
3	chr5:177790380..177792280-chr5:177796021..177798764,2	K562	blood:

Variant related genes	Relation type
ENSG00000253698	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2973707	chr5:177790357-177790358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555027498	chr5:177790361-177790362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573427322	chr5:177790389-177790390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184839649	chr5:177790402-177790403	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116733164	chr5:177790411-177790412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs577229897	chr5:177790415-177790416	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs138636450	chr5:177790431-177790432	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545244045	chr5:177790480-177790481	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs563458280	chr5:177790506-177790507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs187349717	chr5:177790522-177790523	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs192953564	chr5:177790542-177790543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs562142442	chr5:177790580-177790581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs151138341	chr5:177790596-177790597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs547921499	chr5:177790612-177790613	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566031945	chr5:177790646-177790647	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533192666	chr5:177790701-177790702	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2910109	chr5:177790713-177790714	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570287064	chr5:177790714-177790715	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537626877	chr5:177790715-177790716	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555584336	chr5:177790717-177790718	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574715891	chr5:177790742-177790743	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371208374	chr5:177790755-177790756	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184823714	chr5:177790796-177790797	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534376396	chr5:177790817-177790818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs541792381	chr5:177790894-177790895	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs552655302	chr5:177790897-177790898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs577539511	chr5:177790920-177790921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs73804468	chr5:177790922-177790923	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs374481742	chr5:177790925-177790926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368875326	chr5:177790926-177790927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs10464069	chr5:177790952-177790953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs577116934	chr5:177790987-177790988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs141086050	chr5:177791036-177791037	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561024375	chr5:177791079-177791080	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573078102	chr5:177791084-177791085	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189432290	chr5:177791113-177791114	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115837823	chr5:177791140-177791141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114477164	chr5:177791143-177791144	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181475074	chr5:177791144-177791145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564003747	chr5:177791225-177791226	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531147125	chr5:177791226-177791227	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146936221	chr5:177791232-177791233	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567475893	chr5:177791237-177791238	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534912142	chr5:177791241-177791242	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10213827	chr5:177791276-177791277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183602140	chr5:177791299-177791300	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs58171276	chr5:177791368-177791369	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372351889	chr5:177791385-177791386	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs80137025	chr5:177791407-177791408	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs188327381	chr5:177791417-177791418	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177784400-177790800	Weak transcription	Lung	lung
2	chr5:177784400-177796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:177784400-177798200	Weak transcription	Right Atrium	heart
4	chr5:177784600-177790800	Weak transcription	Placenta	Placenta
5	chr5:177785200-177792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:177785200-177798200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:177785600-177792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177787000-177791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:177787200-177790800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:177787200-177798200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:177787400-177790800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:177788400-177790800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:177788400-177790800	Enhancers	HSMMtube	muscle
14	chr5:177789200-177791600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:177789200-177795800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177789400-177790600	Weak transcription	Spleen	Spleen
17	chr5:177789400-177791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177789400-177791400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:177789400-177791400	Enhancers	Fetal Muscle Leg	muscle
20	chr5:177789400-177792800	Weak transcription	Thymus	Thymus
21	chr5:177789600-177791800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177790200-177792600	Enhancers	Fetal Thymus	thymus
23	chr5:177790400-177790600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr5:177790400-177791600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr5:177790600-177791600	Enhancers	Spleen	Spleen
26	chr5:177790600-177793400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr5:177790800-177791000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:177790800-177791800	Enhancers	Lung	lung
29	chr5:177790800-177792000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:177790800-177792000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:177790800-177792400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:177790800-177794200	Enhancers	Placenta	Placenta
33	chr5:177791000-177791200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr5:177791000-177791400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:177791000-177791400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr5:177791200-177791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:177791200-177791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:177791200-177793200	Bivalent Enhancer	Fetal Stomach	stomach
39	chr5:177791200-177795000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:177791400-177791600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:177791400-177792000	Enhancers	Fetal Lung	lung
42	chr5:177791400-177792000	Enhancers	Dnd41	blood
43	chr5:177791400-177792000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:177791400-177792600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr5:177791600-177793000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:177791600-177794600	Weak transcription	Spleen	Spleen
47	chr5:177791800-177792000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:177791800-177792400	Enhancers	Fetal Brain Male	brain
49	chr5:177791800-177793000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:177792000-177792400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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