Variant report

Variant	esv3376167
Chromosome Location	chr5:81007446-81009444
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	chr5:81004548..81007464-chr5:81143257..81145481,2	K562	blood:
2	chr5:81002134..81004521-chr5:81007917..81010002,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149771598	chr5:81007472-81007473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370947183	chr5:81007476-81007477	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553909783	chr5:81007496-81007497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1373966	chr5:81007502-81007503	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558242289	chr5:81007512-81007513	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71000855	chr5:81007513-81007514	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185043445	chr5:81007518-81007519	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576265356	chr5:81007519-81007520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397796836	chr5:81007523-81007524	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543386703	chr5:81007607-81007608	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189077011	chr5:81007644-81007645	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191602154	chr5:81007695-81007696	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28405913	chr5:81007697-81007698	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115058225	chr5:81007707-81007708	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184165614	chr5:81007809-81007810	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188118335	chr5:81007832-81007833	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144597662	chr5:81007833-81007834	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180718279	chr5:81007857-81007858	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531198240	chr5:81007890-81007891	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147912763	chr5:81007955-81007956	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571218563	chr5:81008022-81008023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186103575	chr5:81008086-81008087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376135156	chr5:81008112-81008113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141328482	chr5:81008181-81008182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201577443	chr5:81008182-81008183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113819812	chr5:81008184-81008185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371039839	chr5:81008313-81008314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572341338	chr5:81008427-81008428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190279445	chr5:81008434-81008435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565765852	chr5:81008439-81008440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535992144	chr5:81008440-81008441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554734428	chr5:81008506-81008507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570075502	chr5:81008515-81008516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182446170	chr5:81008521-81008522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs586695	chr5:81008527-81008528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34642922	chr5:81008547-81008548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545967741	chr5:81008556-81008557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76547167	chr5:81008559-81008560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184103276	chr5:81008561-81008562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202099788	chr5:81008570-81008571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576765889	chr5:81008578-81008579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541022215	chr5:81008599-81008600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367832461	chr5:81008628-81008629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571554635	chr5:81008674-81008675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574858478	chr5:81008681-81008682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78140999	chr5:81008699-81008700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371757018	chr5:81008721-81008722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541971182	chr5:81008736-81008737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141638003	chr5:81008793-81008794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531018153	chr5:81008826-81008827	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
6	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
8	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
10	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:80997400-81008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:80999400-81013000	Weak transcription	Ovary	ovary
16	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
17	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
19	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
21	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:81003400-81013200	Weak transcription	HSMM	muscle
23	chr5:81003800-81008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:81004000-81009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:81004800-81009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
30	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:81006200-81010800	Weak transcription	Fetal Thymus	thymus
36	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
37	chr5:81006400-81009200	Enhancers	Colon Smooth Muscle	Colon
38	chr5:81006400-81010800	Weak transcription	GM12878-XiMat	blood
39	chr5:81006400-81011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:81007200-81008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:81007200-81012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:81007400-81007600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:81007400-81007800	Enhancers	Primary T cells from cord blood	blood
46	chr5:81007400-81008000	Genic enhancers	Dnd41	blood
47	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:81007600-81008200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:81007800-81011800	Weak transcription	Primary T cells from cord blood	blood
50	chr5:81008000-81008200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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