Variant report

Variant	nsv965528
Chromosome Location	chr5:80168860-80171687
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	chr5:80168752..80172903-chr5:80173933..80177155,4	K562	blood:
2	chr5:80168752..80172903-chr5:80174293..80177155,4	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368317493	chr5:80168883-80168884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372327709	chr5:80168892-80168893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375522597	chr5:80168894-80168895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113158854	chr5:80168914-80168915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369935724	chr5:80168918-80168919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113581036	chr5:80168930-80168931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs26279	chr5:80168937-80168938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144603433	chr5:80168940-80168941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1805131	chr5:80168964-80168965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564770327	chr5:80168969-80168970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188074706	chr5:80168970-80168971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34364207	chr5:80169000-80169001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372732917	chr5:80169030-80169031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529394454	chr5:80169035-80169036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180975253	chr5:80169088-80169089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377191897	chr5:80169094-80169095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545543643	chr5:80169100-80169101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371218489	chr5:80169113-80169114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375679329	chr5:80169123-80169124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376635676	chr5:80169134-80169135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371219854	chr5:80169142-80169143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371414104	chr5:80169148-80169149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56404757	chr5:80169150-80169151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6151928	chr5:80169170-80169171	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6151930	chr5:80169176-80169177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6875211	chr5:80169183-80169184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530200287	chr5:80169251-80169252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547156376	chr5:80169374-80169375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6151931	chr5:80169394-80169395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539125423	chr5:80169419-80169420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559103309	chr5:80169473-80169474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs27887	chr5:80169477-80169478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs27494	chr5:80169543-80169544	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs554531183	chr5:80169551-80169552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545303021	chr5:80169594-80169595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574657920	chr5:80169615-80169616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540183510	chr5:80169625-80169626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs27385	chr5:80169672-80169673	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576670926	chr5:80169718-80169719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75761880	chr5:80169724-80169725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186224800	chr5:80169786-80169787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6151932	chr5:80169824-80169825	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138684786	chr5:80169841-80169842	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142689386	chr5:80169862-80169863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6151933	chr5:80169976-80169977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114092284	chr5:80170015-80170016	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143428410	chr5:80170062-80170063	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532756149	chr5:80170100-80170101	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552674612	chr5:80170118-80170119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4704687	chr5:80170125-80170126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	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
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
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
3	chr5:80141200-80178800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:80143000-80175400	Weak transcription	HMEC	breast
5	chr5:80145600-80172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:80145600-80175600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:80145800-80173400	Weak transcription	Colonic Mucosa	Colon
9	chr5:80146000-80173400	Weak transcription	Esophagus	oesophagus
10	chr5:80146400-80170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80146400-80173400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:80148600-80175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:80148800-80173200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:80149200-80176200	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:80149800-80180000	Weak transcription	Psoas Muscle	Psoas
16	chr5:80151200-80173000	Weak transcription	Fetal Brain Male	brain
17	chr5:80151600-80175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:80152000-80170800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:80152000-80171000	Weak transcription	Lung	lung
20	chr5:80152000-80173400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:80152000-80173400	Weak transcription	Pancreas	Pancrea
22	chr5:80152000-80173400	Weak transcription	Thymus	Thymus
23	chr5:80152200-80170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:80152800-80173200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:80152800-80179000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:80153400-80173400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:80154000-80173600	Weak transcription	Fetal Brain Female	brain
28	chr5:80155600-80171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:80157000-80173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:80157200-80172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:80157200-80173800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:80157400-80169400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:80157600-80173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:80157600-80173400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:80157600-80180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:80157800-80171000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:80161000-80171000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:80162000-80169000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:80162000-80173400	Weak transcription	Brain Anterior Caudate	brain
40	chr5:80162200-80171000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:80162200-80171000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:80163000-80173400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:80163000-80173600	Weak transcription	HepG2	liver
44	chr5:80163000-80175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:80163200-80170800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:80163200-80171200	Weak transcription	GM12878-XiMat	blood
48	chr5:80163200-80173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:80163200-80175600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:80163200-80180000	Weak transcription	Fetal Kidney	kidney

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