Variant report

Variant	nsv524024
Chromosome Location	chr5:76166018-76187777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76170197..76172032-chr5:76326129..76328554,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164252	chromatin interactions

Extended variants
information (count: 881 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6453259	chr5:76166018-76166019	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs118089990	chr5:76166026-76166027	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551287601	chr5:76166043-76166044	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139149353	chr5:76166056-76166057	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537205235	chr5:76166077-76166078	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557543570	chr5:76166078-76166079	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185691296	chr5:76166083-76166084	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112017563	chr5:76166182-76166183	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569132148	chr5:76166227-76166228	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559766901	chr5:76166268-76166269	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147639629	chr5:76166279-76166280	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60254599	chr5:76166309-76166310	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545515513	chr5:76166316-76166317	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115102187	chr5:76166325-76166326	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567969557	chr5:76166338-76166339	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369749936	chr5:76166352-76166353	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76949616	chr5:76166369-76166370	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58506553	chr5:76166392-76166393	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549677841	chr5:76166407-76166408	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563522567	chr5:76166420-76166421	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529157101	chr5:76166422-76166423	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560316612	chr5:76166431-76166432	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190408362	chr5:76166458-76166459	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565331356	chr5:76166459-76166460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142315126	chr5:76166492-76166493	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550969739	chr5:76166509-76166510	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570764201	chr5:76166630-76166631	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570974006	chr5:76166638-76166639	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545596913	chr5:76166641-76166642	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534513264	chr5:76166674-76166675	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537170757	chr5:76166675-76166676	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557249745	chr5:76166683-76166684	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377265710	chr5:76166749-76166750	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182713037	chr5:76166754-76166755	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6891159	chr5:76166764-76166765	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188480734	chr5:76166929-76166930	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553750117	chr5:76166971-76166972	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1343713	chr5:76166974-76166975	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1343712	chr5:76166983-76166984	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376127437	chr5:76167059-76167060	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370753557	chr5:76167060-76167061	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575623120	chr5:76167083-76167084	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544722121	chr5:76167087-76167088	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7710155	chr5:76167123-76167124	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6453260	chr5:76167143-76167144	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs548262838	chr5:76167146-76167147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116253759	chr5:76167176-76167177	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568472770	chr5:76167208-76167209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71630997	chr5:76167245-76167246	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565094996	chr5:76167346-76167347	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76153000-76174400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:76159000-76169600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:76163800-76171800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:76164000-76169400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:76164000-76169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:76164000-76169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:76164000-76169400	Weak transcription	Fetal Heart	heart
8	chr5:76164000-76169400	Weak transcription	A549	lung
9	chr5:76164000-76170200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:76164200-76169800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:76164600-76167800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:76164600-76168200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:76164600-76168800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:76164600-76169600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:76165000-76166400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:76165200-76166400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:76165200-76167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:76165200-76169400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:76165400-76170200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:76165400-76171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:76165600-76169400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:76165800-76166600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:76165800-76167200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:76165800-76167400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:76166000-76166200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:76166000-76166400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:76166000-76166400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:76166000-76167200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:76166000-76167200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:76166000-76167200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:76166200-76166800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:76166200-76167000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:76166400-76169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:76166400-76169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:76166400-76171200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:76166600-76170200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:76166800-76167000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:76167000-76170200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:76167000-76171000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:76167200-76169400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:76167200-76169800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:76167200-76169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:76167200-76169800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:76167400-76169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:76167400-76169600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:76167800-76169400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:76168200-76169400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:76168800-76169400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:76169000-76169600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:76169400-76169600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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