Variant report

Variant	nsv1030915
Chromosome Location	chr5:177880081-177934927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:
2	chr5:177892314..177894580-chr5:177899757..177901738,2	K562	blood:
3	chr5:177780201..177782328-chr5:177897256..177899348,2	MCF-7	breast:
4	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:
5	chr5:177885956..177889656-chr5:177894667..177897889,3	MCF-7	breast:
6	chr5:177882178..177883994-chr5:177886180..177888676,2	K562	blood:
7	chr5:177887745..177890184-chr5:177903224..177905118,2	K562	blood:
8	chr5:177882178..177883994-chr5:177886180..177888676,2	K562	blood:
9	chr5:177888015..177888839-chr5:177977833..177978735,3	MCF-7	breast:
10	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:
11	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
12	chr5:177865902..177866648-chr5:177887888..177888885,2	K562	blood:
13	chr5:177893036..177895122-chr5:177964444..177967291,2	K562	blood:
14	chr5:177879886..177881970-chr5:177890471..177892015,2	K562	blood:
15	chr5:177876786..177879529-chr5:177883377..177886367,2	K562	blood:
16	chr5:177873433..177876156-chr5:177880110..177882555,2	K562	blood:
17	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:
18	chr5:177876265..177878231-chr5:177880241..177881910,2	K562	blood:
19	chr5:177768665..177770480-chr5:177878843..177880879,2	K562	blood:
20	chr5:177892314..177894580-chr5:177899757..177901738,2	K562	blood:
21	chr5:177894292..177896063-chr5:177897258..177899224,2	K562	blood:
22	chr5:177879706..177881386-chr5:177883345..177884930,2	K562	blood:
23	chr5:177885956..177889656-chr5:177894667..177897889,3	MCF-7	breast:
24	chr5:177881991..177885625-chr5:177886030..177888202,3	MCF-7	breast:
25	chr5:177876012..177877743-chr5:177880216..177882479,2	MCF-7	breast:
26	chr5:177887805..177889193-chr5:178016576..178017370,3	MCF-7	breast:
27	chr15:91426417..91426918-chr5:177903850..177904350,2	NB4	blood:
28	chr5:177887745..177890184-chr5:177903224..177905118,2	K562	blood:
29	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
30	chr5:177879886..177881970-chr5:177890471..177892015,2	K562	blood:
31	chr5:177894292..177896063-chr5:177897258..177899224,2	K562	blood:
32	chr5:177861063..177863215-chr5:177895852..177898464,2	K562	blood:
33	chr5:177888252..177888759-chr5:177978244..177978784,2	K562	blood:
34	chr5:177881991..177885625-chr5:177886030..177888202,3	MCF-7	breast:
35	chr5:177887719..177888721-chr5:177977307..177978270,3	MCF-7	breast:
36	chr5:177879706..177881386-chr5:177883345..177884930,2	K562	blood:

No data

Extended variants
information (count: 2333 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2333 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564638578	chr5:177880129-177880130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368940304	chr5:177880131-177880132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533557474	chr5:177880157-177880158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530167058	chr5:177880171-177880172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552013643	chr5:177880183-177880184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78090195	chr5:177880194-177880195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377590943	chr5:177880216-177880217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144021338	chr5:177880237-177880238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527648949	chr5:177880258-177880259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191283683	chr5:177880267-177880268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571075765	chr5:177880277-177880278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12652427	chr5:177880278-177880279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547740314	chr5:177880308-177880309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556838859	chr5:177880316-177880317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114248848	chr5:177880324-177880325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117230552	chr5:177880395-177880396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375052322	chr5:177880434-177880435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553804675	chr5:177880442-177880443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568017317	chr5:177880461-177880462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571962854	chr5:177880477-177880478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533807632	chr5:177880478-177880479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183135717	chr5:177880526-177880527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575971954	chr5:177880533-177880534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185988569	chr5:177880534-177880535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561574522	chr5:177880548-177880549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7726272	chr5:177880549-177880550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377724197	chr5:177880607-177880608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541934652	chr5:177880621-177880622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570346863	chr5:177880624-177880625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112016559	chr5:177880627-177880628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190957697	chr5:177880664-177880665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552584283	chr5:177880710-177880711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571840791	chr5:177880746-177880747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539618954	chr5:177880771-177880772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564316684	chr5:177880794-177880795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532080378	chr5:177880799-177880800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550476135	chr5:177880825-177880826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7722916	chr5:177880829-177880830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536025077	chr5:177880885-177880886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115474602	chr5:177880947-177880948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565723762	chr5:177880966-177880967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539157103	chr5:177880967-177880968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557768438	chr5:177880983-177880984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184007399	chr5:177881013-177881014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187559486	chr5:177881017-177881018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190987794	chr5:177881073-177881074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573509064	chr5:177881084-177881085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2546626	chr5:177881110-177881111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572795017	chr5:177881113-177881114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6867956	chr5:177881162-177881163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
2	chr5:177871800-177880600	Weak transcription	Fetal Thymus	thymus
3	chr5:177874600-177888200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:177877000-177881600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177877600-177880200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:177877600-177880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:177877600-177881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177877600-177894200	Weak transcription	Spleen	Spleen
9	chr5:177877800-177880800	Enhancers	K562	blood
10	chr5:177877800-177895400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:177878000-177888000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:177879200-177881000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:177879800-177881600	Enhancers	NHDF-Ad	bronchial
14	chr5:177880000-177880800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:177880000-177880800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:177880000-177880800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:177880000-177881000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:177880200-177880400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:177880200-177880800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:177880200-177881000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:177880200-177881600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:177880200-177882200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177880600-177880800	Enhancers	Fetal Thymus	thymus
24	chr5:177880600-177882600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:177880800-177881200	Weak transcription	Fetal Thymus	thymus
26	chr5:177880800-177882200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:177880800-177888000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:177881000-177881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:177881000-177887400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:177881200-177881800	Enhancers	Fetal Thymus	thymus
31	chr5:177881400-177881600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:177881400-177882800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:177881600-177881800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:177881600-177882800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:177881600-177888000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:177881800-177887400	Weak transcription	Fetal Thymus	thymus
37	chr5:177882000-177882600	Enhancers	Esophagus	oesophagus
38	chr5:177882200-177882800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:177882800-177887600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:177882800-177888000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177883800-177884000	Enhancers	Fetal Stomach	stomach
42	chr5:177885000-177887200	Weak transcription	Fetal Stomach	stomach
43	chr5:177885200-177886400	Enhancers	Dnd41	blood
44	chr5:177887200-177887400	Enhancers	Right Atrium	heart
45	chr5:177887200-177888600	Enhancers	Placenta	Placenta
46	chr5:177887200-177889200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:177887200-177889400	Enhancers	Fetal Heart	heart
48	chr5:177887200-177896600	Enhancers	Fetal Stomach	stomach
49	chr5:177887400-177887800	Weak transcription	Right Atrium	heart
50	chr5:177887400-177889000	Enhancers	Fetal Thymus	thymus

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