Variant report

Variant	esv3365831
Chromosome Location	chr5:97585090-97613731
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	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:
2	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:

Extended variants
information (count: 1038 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535038864	chr5:97585095-97585096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553606966	chr5:97585103-97585104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138267946	chr5:97585120-97585121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527652898	chr5:97585149-97585150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563777185	chr5:97585153-97585154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371538139	chr5:97585177-97585178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191161251	chr5:97585207-97585208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182124149	chr5:97585235-97585236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547386815	chr5:97585252-97585253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531354611	chr5:97585264-97585265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529063721	chr5:97585279-97585280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144100431	chr5:97585286-97585287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374468989	chr5:97585352-97585353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570677390	chr5:97585361-97585362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187179463	chr5:97585392-97585393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115560182	chr5:97585395-97585396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191520712	chr5:97585398-97585399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150260886	chr5:97585407-97585408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367991387	chr5:97585438-97585439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7734650	chr5:97585462-97585463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs182899191	chr5:97585478-97585479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188552840	chr5:97585643-97585644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553402356	chr5:97585683-97585684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578162968	chr5:97585684-97585685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74832259	chr5:97585685-97585686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535156732	chr5:97585711-97585712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557432480	chr5:97585712-97585713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559155296	chr5:97585731-97585732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575694069	chr5:97585745-97585746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543173493	chr5:97585771-97585772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193114669	chr5:97585772-97585773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138914229	chr5:97585784-97585785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571960752	chr5:97585785-97585786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149403648	chr5:97585816-97585817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541178605	chr5:97585821-97585822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534569781	chr5:97585883-97585884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559390712	chr5:97585888-97585889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533304545	chr5:97586010-97586011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57534328	chr5:97586014-97586015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370833322	chr5:97586028-97586029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143968473	chr5:97586068-97586069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548687890	chr5:97586115-97586116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139859102	chr5:97586121-97586122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368423044	chr5:97586186-97586187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112153257	chr5:97586191-97586192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546454227	chr5:97586260-97586261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56191294	chr5:97586353-97586354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571740706	chr5:97586383-97586384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539375381	chr5:97586446-97586447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557665147	chr5:97586486-97586487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97582200-97602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97583800-97585600	Enhancers	Osteobl	bone
3	chr5:97584600-97585200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:97584600-97585200	Enhancers	NHEK	skin
5	chr5:97584600-97585400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:97584800-97585200	Enhancers	NH-A	brain
7	chr5:97587800-97588000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:97587800-97588600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:97588400-97588800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:97588600-97588800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:97596600-97597000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:97597400-97597800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:97597400-97600000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:97598000-97598200	Enhancers	Brain Germinal Matrix	brain
15	chr5:97598000-97599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:97598200-97599000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:97598200-97599200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:97598800-97599400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:97599200-97599800	Enhancers	Brain Germinal Matrix	brain
20	chr5:97599400-97600800	Enhancers	HUVEC	blood vessel
21	chr5:97602400-97602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97602800-97603000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97603000-97603200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:97603200-97634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:97603600-97604600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:97608200-97609000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:97608400-97609000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:97608600-97609200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:97608800-97609400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:97612000-97613200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:97612200-97612600	Enhancers	Stomach Mucosa	stomach
32	chr5:97612200-97612800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:97612200-97612800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:97612200-97613000	Enhancers	NHDF-Ad	bronchial
35	chr5:97612400-97613000	Enhancers	Osteobl	bone
36	chr5:97613000-97622800	Weak transcription	NHDF-Ad	bronchial

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