Variant report

Variant	esv3373392
Chromosome Location	chr5:177520446-177526044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177503413..177514913-chr5:177516551..177522941,24	MCF-7	breast:
2	chr5:177509207..177514197-chr5:177523151..177527432,6	MCF-7	breast:
3	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:
4	chr5:177515847..177518425-chr5:177518686..177521487,4	MCF-7	breast:
5	chr5:177518051..177521986-chr5:177526387..177530024,4	MCF-7	breast:
6	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:
7	chr5:177516313..177518533-chr5:177518658..177522708,4	MCF-7	breast:

Extended variants
information (count: 373 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139227455	chr5:177520490-177520491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575636012	chr5:177520493-177520494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144052939	chr5:177520504-177520505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146411465	chr5:177520516-177520517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541471875	chr5:177520522-177520523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376066591	chr5:177520552-177520553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75997540	chr5:177520571-177520572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534638701	chr5:177520582-177520583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369008428	chr5:177520637-177520638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372568241	chr5:177520908-177520909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377094704	chr5:177520929-177520930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561337750	chr5:177520952-177520953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180873377	chr5:177521013-177521014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376746059	chr5:177521131-177521132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377601181	chr5:177521144-177521145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572043391	chr5:177521162-177521163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540945943	chr5:177521166-177521167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531313531	chr5:177521170-177521171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185220963	chr5:177521184-177521185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567955625	chr5:177521216-177521217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535112037	chr5:177521267-177521268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140285496	chr5:177521272-177521273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117490790	chr5:177521295-177521296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73804705	chr5:177521296-177521297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557676409	chr5:177521323-177521324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577220850	chr5:177521326-177521327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537948561	chr5:177521375-177521376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556658115	chr5:177521386-177521387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574720305	chr5:177521410-177521411	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146992542	chr5:177521528-177521529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560733523	chr5:177521536-177521537	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550256374	chr5:177521574-177521575	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557523158	chr5:177521589-177521590	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546374687	chr5:177521636-177521637	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370974298	chr5:177521643-177521644	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572003159	chr5:177521647-177521648	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564523524	chr5:177521659-177521660	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138373399	chr5:177521689-177521690	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375782915	chr5:177521709-177521710	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190825620	chr5:177521712-177521713	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142403313	chr5:177521729-177521730	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528827724	chr5:177521746-177521747	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146581921	chr5:177521777-177521778	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565596900	chr5:177521873-177521874	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138681529	chr5:177521921-177521922	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377712644	chr5:177521922-177521923	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76378686	chr5:177521939-177521940	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569739652	chr5:177522022-177522023	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34015040	chr5:177522031-177522032	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556356215	chr5:177522044-177522045	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177513600-177526400	Weak transcription	Gastric	stomach
2	chr5:177519600-177520600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:177519600-177521400	Enhancers	Primary T cells from cord blood	blood
4	chr5:177519600-177522000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:177519600-177522200	Enhancers	Fetal Thymus	thymus
6	chr5:177519800-177520600	Enhancers	Primary B cells from cord blood	blood
7	chr5:177519800-177521600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:177519800-177522200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr5:177520200-177520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:177520200-177520600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:177520200-177520600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr5:177520200-177520600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:177520200-177522000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:177520200-177522000	Enhancers	Thymus	Thymus
15	chr5:177520200-177522200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:177520400-177521000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:177520400-177521400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:177520400-177521400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:177520400-177521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:177520600-177521000	Weak transcription	Primary B cells from cord blood	blood
21	chr5:177520600-177521000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:177520600-177521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:177520600-177521000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:177520600-177521000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:177520600-177521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:177521000-177521800	Enhancers	Primary B cells from cord blood	blood
27	chr5:177521000-177522000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:177521000-177522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:177521000-177522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:177521000-177522000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:177521000-177522000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:177521000-177522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:177521200-177522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:177521200-177522000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:177521400-177521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:177521400-177521600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:177521400-177521600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr5:177521400-177521800	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:177521400-177521800	Enhancers	Primary hematopoietic stem cells	blood
40	chr5:177521400-177521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:177521400-177521800	Enhancers	Fetal Muscle Trunk	muscle
42	chr5:177521400-177522000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:177521600-177521800	Enhancers	Primary T cells from cord blood	blood
44	chr5:177521600-177522200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr5:177521800-177522000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr5:177522000-177522200	Enhancers	Primary T cells from cord blood	blood
47	chr5:177524600-177524800	Enhancers	Esophagus	oesophagus
48	chr5:177524800-177527800	Weak transcription	Esophagus	oesophagus
49	chr5:177525400-177526600	Enhancers	Placenta	Placenta
50	chr5:177525600-177526000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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