Variant report

Variant	nsv600424
Chromosome Location	chr5:177898650-177961860
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177940111..177942825-chr5:177947320..177948869,2	MCF-7	breast:
2	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:
3	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
4	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:
5	chr12:66043001..66043501-chr5:177956345..177956885,2	Hela-S3	cervix:
6	chr5:177892314..177894580-chr5:177899757..177901738,2	K562	blood:
7	chr5:177894292..177896063-chr5:177897258..177899224,2	K562	blood:
8	chr5:177940111..177942825-chr5:177947320..177948869,2	MCF-7	breast:
9	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:
10	chr5:177915163..177917911-chr5:177920254..177922621,2	K562	blood:
11	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:
12	chr5:177887745..177890184-chr5:177903224..177905118,2	K562	blood:
13	chr15:91426417..91426918-chr5:177903850..177904350,2	NB4	blood:
14	chr5:177938102..177940198-chr5:177941546..177944250,2	MCF-7	breast:
15	chr5:177933177..177935280-chr5:177937428..177940309,2	MCF-7	breast:
16	chr5:177938102..177940198-chr5:177941546..177944250,2	MCF-7	breast:
17	chr5:177780201..177782328-chr5:177897256..177899348,2	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: 2678 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2678 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2647697	chr5:177898650-177898651	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186169683	chr5:177898725-177898726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190099707	chr5:177898726-177898727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563639215	chr5:177898788-177898789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181522704	chr5:177898818-177898819	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145761806	chr5:177898854-177898855	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561035651	chr5:177898876-177898877	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78215667	chr5:177898902-177898903	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148920899	chr5:177898924-177898925	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185955923	chr5:177898936-177898937	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142811237	chr5:177898952-177898953	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551478103	chr5:177898956-177898957	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17052428	chr5:177898958-177898959	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529531520	chr5:177899014-177899015	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs2672831	chr5:177899025-177899026	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7710305	chr5:177899043-177899044	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs2546639	chr5:177899050-177899051	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11955471	chr5:177899079-177899080	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs34523096	chr5:177899131-177899132	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs182615040	chr5:177899159-177899160	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs59608037	chr5:177899178-177899179	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78933776	chr5:177899179-177899180	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs375364115	chr5:177899181-177899182	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2546640	chr5:177899192-177899193	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13159176	chr5:177899270-177899271	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561073197	chr5:177899299-177899300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2546641	chr5:177899308-177899309	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545910331	chr5:177899313-177899314	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs546475249	chr5:177899335-177899336	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs376175139	chr5:177899340-177899341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559840149	chr5:177899357-177899358	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs187551900	chr5:177899429-177899430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190978143	chr5:177899448-177899449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569924954	chr5:177899485-177899486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182766846	chr5:177899507-177899508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531245324	chr5:177899519-177899520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575331003	chr5:177899527-177899528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549216095	chr5:177899532-177899533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377442865	chr5:177899547-177899548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116900334	chr5:177899572-177899573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149585327	chr5:177899580-177899581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548734486	chr5:177899599-177899600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534925561	chr5:177899640-177899641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs693807	chr5:177899650-177899651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187486947	chr5:177899713-177899714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76486383	chr5:177899767-177899768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113692957	chr5:177899798-177899799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556932139	chr5:177899812-177899813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142669667	chr5:177899827-177899828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77456515	chr5:177899837-177899838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177890600-177901600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:177894400-177899400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:177894600-177902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:177895200-177901600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:177895400-177900400	Weak transcription	Fetal Thymus	thymus
6	chr5:177895800-177901200	Weak transcription	Liver	Liver
7	chr5:177896000-177900600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:177896000-177903600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:177896200-177901200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177896600-177900600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:177897200-177899400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:177897200-177899600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:177897600-177899000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:177897600-177899400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:177897600-177899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:177897600-177900600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:177897800-177898800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177898000-177898800	Enhancers	Spleen	Spleen
19	chr5:177898000-177899800	Weak transcription	Fetal Lung	lung
20	chr5:177898200-177899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:177898600-177898800	Enhancers	Right Ventricle	heart
22	chr5:177898600-177899000	Enhancers	Esophagus	oesophagus
23	chr5:177898800-177899000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:177898800-177899200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:177898800-177902600	Weak transcription	Spleen	Spleen
26	chr5:177899000-177899200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:177899000-177899200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:177899000-177899400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:177899000-177901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:177899000-177910400	Weak transcription	Thymus	Thymus
31	chr5:177899200-177899400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:177899200-177899400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr5:177899200-177899600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:177899200-177901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:177899400-177900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:177899400-177900800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:177899400-177902200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:177899600-177901000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:177899600-177907400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:177900400-177901400	Enhancers	Fetal Thymus	thymus
41	chr5:177900600-177900800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:177900600-177901200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:177900600-177904000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:177900800-177901200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:177900800-177901200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:177900800-177901200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:177900800-177901400	Enhancers	Dnd41	blood
48	chr5:177901000-177901400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:177901000-177901400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:177901000-177902200	Enhancers	HUES48 Cell Line	embryonic stem cell

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