Variant report

Variant	nsv471059
Chromosome Location	chr5:177919951-177965696
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177893036..177895122-chr5:177964444..177967291,2	K562	blood:
2	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:
3	chr5:177940111..177942825-chr5:177947320..177948869,2	MCF-7	breast:
4	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:
5	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
6	chr5:177938102..177940198-chr5:177941546..177944250,2	MCF-7	breast:
7	chr5:177938102..177940198-chr5:177941546..177944250,2	MCF-7	breast:
8	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:
9	chr5:177940111..177942825-chr5:177947320..177948869,2	MCF-7	breast:
10	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
11	chr12:66043001..66043501-chr5:177956345..177956885,2	Hela-S3	cervix:
12	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLK4-2	chr5:177950506-177950714	NONHSAT105537

No data

Extended variants
information (count: 1980 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1980 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7718220	chr5:177919951-177919952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114479934	chr5:177919987-177919988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185369768	chr5:177920035-177920036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146535281	chr5:177920037-177920038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561816852	chr5:177920052-177920053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574993526	chr5:177920071-177920072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116071385	chr5:177920193-177920194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560563498	chr5:177920202-177920203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527713526	chr5:177920220-177920221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189432555	chr5:177920231-177920232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564648198	chr5:177920244-177920245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531984896	chr5:177920295-177920296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79190299	chr5:177920312-177920313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568357152	chr5:177920318-177920319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs477861	chr5:177920345-177920346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547120518	chr5:177920356-177920357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181524292	chr5:177920369-177920370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539080115	chr5:177920383-177920384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35527006	chr5:177920393-177920394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528551684	chr5:177920417-177920418	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs184983719	chr5:177920418-177920419	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs537299185	chr5:177920422-177920423	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188330021	chr5:177920437-177920438	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs181843017	chr5:177920458-177920459	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs77428713	chr5:177920465-177920466	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs74665859	chr5:177920492-177920493	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs10066353	chr5:177920507-177920508	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545880488	chr5:177920565-177920566	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs552140974	chr5:177920653-177920654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs371051795	chr5:177920686-177920687	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs192397275	chr5:177920688-177920689	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs531588391	chr5:177920721-177920722	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs11249548	chr5:177920748-177920749	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115568830	chr5:177920758-177920759	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs374067063	chr5:177920787-177920788	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs150263403	chr5:177920821-177920822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565657833	chr5:177920840-177920841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377758709	chr5:177920915-177920916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376846757	chr5:177920917-177920918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539469943	chr5:177920920-177920921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551097952	chr5:177920954-177920955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113801001	chr5:177920976-177920977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201773646	chr5:177921006-177921007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397885109	chr5:177921007-177921008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537039157	chr5:177921031-177921032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555726318	chr5:177921041-177921042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567551700	chr5:177921077-177921078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187123672	chr5:177921087-177921088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148976874	chr5:177921108-177921109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369048804	chr5:177921157-177921158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177915000-177933200	Weak transcription	Right Atrium	heart
2	chr5:177916800-177921400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:177918600-177921800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:177918600-177923600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:177918600-177929800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177919000-177920600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:177919800-177921800	Weak transcription	Spleen	Spleen
8	chr5:177919800-177923800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:177920400-177920800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:177920600-177921000	Enhancers	Fetal Stomach	stomach
11	chr5:177920600-177921600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:177921600-177922000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:177921800-177922200	Enhancers	Spleen	Spleen
14	chr5:177921800-177924600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:177922000-177924600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:177922800-177924600	Enhancers	NHDF-Ad	bronchial
17	chr5:177923000-177923600	Enhancers	Placenta	Placenta
18	chr5:177923000-177924600	Enhancers	HUVEC	blood vessel
19	chr5:177923600-177924400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:177923800-177924400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:177924200-177924400	Enhancers	Placenta	Placenta
22	chr5:177924400-177927200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:177924600-177928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:177927200-177929000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr5:177928200-177928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:177928200-177938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:177928400-177931600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:177928800-177929000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:177928800-177930000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:177929000-177933200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:177929800-177930200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:177929800-177930200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:177930000-177931600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:177930200-177931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:177931200-177932200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:177931400-177932200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:177931400-177932200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:177931400-177932200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:177931600-177932000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:177931600-177932200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:177931600-177932400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:177931800-177932000	Enhancers	Fetal Stomach	stomach
43	chr5:177931800-177932000	Bivalent Enhancer	HepG2	liver
44	chr5:177932000-177932600	Weak transcription	Fetal Stomach	stomach
45	chr5:177932200-177933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:177932400-177932800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:177932600-177933200	Enhancers	Fetal Stomach	stomach
48	chr5:177932800-177933200	Enhancers	Left Ventricle	heart
49	chr5:177932800-177933800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:177933400-177933600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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