Variant report

Variant	nsv964985
Chromosome Location	chr5:177524635-177531894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177509207..177514197-chr5:177523151..177527432,6	MCF-7	breast:
2	chr5:177511118..177513387-chr5:177528062..177529998,2	MCF-7	breast:
3	chr5:177518051..177521986-chr5:177526387..177530024,4	MCF-7	breast:
4	chr5:177519806..177521961-chr5:177524247..177526841,2	K562	blood:
5	chr5:177526479..177529448-chr5:177545070..177546800,2	K562	blood:

Extended variants
information (count: 344 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188076496	chr5:177524639-177524640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561149955	chr5:177524640-177524641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73804706	chr5:177524682-177524683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555009301	chr5:177524695-177524696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561130009	chr5:177524701-177524702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573181389	chr5:177524801-177524802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372626640	chr5:177524824-177524825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13162854	chr5:177524894-177524895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191375568	chr5:177524898-177524899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372493156	chr5:177524911-177524912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577421396	chr5:177524913-177524914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532246721	chr5:177524953-177524954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551835941	chr5:177524963-177524964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563659065	chr5:177524972-177524973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57217976	chr5:177524979-177524980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548975051	chr5:177524987-177524988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567574577	chr5:177525016-177525017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13163180	chr5:177525130-177525131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13163182	chr5:177525133-177525134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs60041011	chr5:177525142-177525143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546931318	chr5:177525165-177525166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571799121	chr5:177525184-177525185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186934038	chr5:177525193-177525194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543683551	chr5:177525210-177525211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556993881	chr5:177525244-177525245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575257031	chr5:177525262-177525263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145166846	chr5:177525297-177525298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35312700	chr5:177525307-177525308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111471163	chr5:177525360-177525361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34110291	chr5:177525369-177525370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558611440	chr5:177525414-177525415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112698455	chr5:177525420-177525421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373865983	chr5:177525433-177525434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377608104	chr5:177525463-177525464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543076709	chr5:177525508-177525509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557037053	chr5:177525540-177525541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530915147	chr5:177525548-177525549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559839968	chr5:177525549-177525550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148647095	chr5:177525558-177525559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28879482	chr5:177525590-177525591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547251912	chr5:177525604-177525605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571871009	chr5:177525608-177525609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532707427	chr5:177525618-177525619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565096186	chr5:177525637-177525638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572125472	chr5:177525658-177525659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150711685	chr5:177525666-177525667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545114681	chr5:177525712-177525713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192458053	chr5:177525748-177525749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536348113	chr5:177525785-177525786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554743634	chr5:177525863-177525864	Enhancers 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	chr5:177524600-177524800	Enhancers	Esophagus	oesophagus
3	chr5:177524800-177527800	Weak transcription	Esophagus	oesophagus
4	chr5:177525400-177526600	Enhancers	Placenta	Placenta
5	chr5:177525600-177526000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:177525800-177526000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:177526000-177534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:177526600-177529000	Weak transcription	Placenta	Placenta
9	chr5:177527600-177528200	Enhancers	Stomach Mucosa	stomach
10	chr5:177527800-177528200	Enhancers	Esophagus	oesophagus
11	chr5:177528200-177530400	Weak transcription	Stomach Mucosa	stomach
12	chr5:177528200-177531400	Weak transcription	Esophagus	oesophagus
13	chr5:177529000-177532000	Enhancers	Placenta	Placenta
14	chr5:177529200-177532000	Weak transcription	Gastric	stomach
15	chr5:177530400-177530800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:177530400-177532000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:177530400-177532400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:177530400-177532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:177530400-177532600	Enhancers	Stomach Mucosa	stomach
20	chr5:177530600-177531200	Enhancers	Colonic Mucosa	Colon
21	chr5:177530600-177531600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:177530600-177532200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:177530600-177532400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:177530800-177532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:177531000-177532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:177531000-177532400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:177531200-177531600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:177531200-177531600	Weak transcription	Colonic Mucosa	Colon
29	chr5:177531200-177531600	Enhancers	NHEK	skin
30	chr5:177531200-177532400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:177531200-177532400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:177531200-177532400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr5:177531400-177531600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:177531400-177532000	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:177531400-177532000	Enhancers	Thymus	Thymus
36	chr5:177531400-177532000	Enhancers	HMEC	breast
37	chr5:177531400-177532400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:177531400-177532400	Enhancers	Fetal Muscle Leg	muscle
39	chr5:177531400-177532400	Enhancers	Lung	lung
40	chr5:177531400-177532600	Enhancers	Esophagus	oesophagus
41	chr5:177531600-177532400	Enhancers	Colonic Mucosa	Colon
42	chr5:177531600-177533600	Weak transcription	NHEK	skin
43	chr5:177531600-177533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:177531600-177534200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:177531600-177535600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:177531800-177532000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:177531800-177532000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:177531800-177532000	Enhancers	Brain Germinal Matrix	brain
49	chr5:177531800-177532200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:177531800-177532400	Enhancers	Primary T helper cells PMA-I stimulated	--

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