Variant report

Variant	nsv462481
Chromosome Location	chr5:148130138-148172689
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:0)
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	chr5:148138515..148140649-chr5:148142991..148144782,2	K562	blood:
2	chr5:148168454..148171371-chr5:148185797..148188904,3	K562	blood:
3	chr5:148121456..148124222-chr5:148128442..148130546,2	K562	blood:
4	chr5:148140351..148143048-chr5:148145611..148147773,2	K562	blood:
5	chr5:148172266..148175579-chr5:148179136..148183018,3	K562	blood:
6	chr5:148149418..148151154-chr5:148154258..148156278,2	MCF-7	breast:
7	chr5:148149418..148151154-chr5:148154258..148156278,2	MCF-7	breast:
8	chr5:148131590..148133223-chr5:148139053..148141368,2	K562	blood:
9	chr5:148140351..148143048-chr5:148145611..148147773,2	K562	blood:
10	chr3:63993448..63996241-chr5:148149750..148152196,2	MCF-7	breast:
11	chr5:148138515..148140649-chr5:148142991..148144782,2	K562	blood:
12	chr5:148131590..148133223-chr5:148139053..148141368,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271843	chromatin interactions

Extended variants
information (count: 1462 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10075525	chr5:148130138-148130139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554849618	chr5:148130142-148130143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142360832	chr5:148130146-148130147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186958966	chr5:148130200-148130201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564512364	chr5:148130201-148130202	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117678006	chr5:148130224-148130225	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544116445	chr5:148130256-148130257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558838313	chr5:148130257-148130258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370300352	chr5:148130260-148130261	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10066472	chr5:148130310-148130311	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13358560	chr5:148130315-148130316	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377317001	chr5:148130381-148130382	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539060883	chr5:148130477-148130478	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560337485	chr5:148130545-148130546	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527270019	chr5:148130556-148130557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552162413	chr5:148130562-148130563	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150841960	chr5:148130604-148130605	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6891709	chr5:148130649-148130650	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550066559	chr5:148130729-148130730	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17108717	chr5:148130780-148130781	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368780317	chr5:148130851-148130852	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535310319	chr5:148130895-148130896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553837285	chr5:148130901-148130902	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565792985	chr5:148130905-148130906	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs989875	chr5:148130924-148130925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557838344	chr5:148130990-148130991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139298496	chr5:148130993-148130994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs989876	chr5:148131004-148131005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190503830	chr5:148131012-148131013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181046669	chr5:148131057-148131058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149990419	chr5:148131111-148131112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559997864	chr5:148131113-148131114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527334606	chr5:148131150-148131151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145192465	chr5:148131189-148131190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563895415	chr5:148131196-148131197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374632542	chr5:148131222-148131223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185571772	chr5:148131230-148131231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189637732	chr5:148131236-148131237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182714543	chr5:148131265-148131266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59371726	chr5:148131326-148131327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557140566	chr5:148131359-148131360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189021704	chr5:148131369-148131370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565560078	chr5:148131429-148131430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539513502	chr5:148131480-148131481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560063246	chr5:148131489-148131490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80244614	chr5:148131509-148131510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13359242	chr5:148131551-148131552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537500637	chr5:148131600-148131601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7702609	chr5:148131716-148131717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574344108	chr5:148131743-148131744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Charcot-marie-tooth disease	22275255	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148119600-148135000	Weak transcription	Right Atrium	heart
2	chr5:148125400-148131200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:148125600-148131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:148125800-148130800	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:148127400-148130200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:148127600-148131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:148128800-148130200	Weak transcription	Fetal Heart	heart
8	chr5:148129000-148130200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:148129200-148131800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:148129400-148130800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:148129800-148130600	Enhancers	Adipose Nuclei	Adipose
12	chr5:148130200-148130400	Enhancers	Primary B cells from cord blood	blood
13	chr5:148130200-148130400	Enhancers	Fetal Heart	heart
14	chr5:148130200-148130600	Enhancers	Spleen	Spleen
15	chr5:148130200-148131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:148130400-148130800	Flanking Active TSS	Fetal Heart	heart
17	chr5:148131000-148131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:148132600-148134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:148134400-148134600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:148134600-148135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:148138000-148138600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:148138400-148138600	Enhancers	Primary B cells from cord blood	blood
23	chr5:148138400-148138600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:148138400-148141000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:148138600-148138800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:148138600-148139000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr5:148138600-148139000	Enhancers	Lung	lung
28	chr5:148138800-148139000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:148139000-148139200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:148139000-148149200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:148139200-148141000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:148140200-148141000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:148140200-148141400	Enhancers	GM12878-XiMat	blood
34	chr5:148140400-148140800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:148140600-148140800	Enhancers	Psoas Muscle	Psoas
36	chr5:148141000-148142800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:148141000-148144800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:148141000-148145000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:148141400-148142800	Weak transcription	GM12878-XiMat	blood
40	chr5:148142800-148143000	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:148142800-148143000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:148142800-148143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:148142800-148143200	Enhancers	GM12878-XiMat	blood
44	chr5:148142800-148143600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:148143200-148145600	Weak transcription	GM12878-XiMat	blood
46	chr5:148143200-148145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:148143600-148145800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:148144800-148145800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:148145000-148149400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:148145400-148145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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