Variant report

Variant	esv3471565
Chromosome Location	chr5:96489727-96490767
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	chr5:96484050..96486367-chr5:96488023..96491599,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143944116	chr5:96489732-96489733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77289512	chr5:96489831-96489832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139016930	chr5:96489871-96489872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184769213	chr5:96489904-96489905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551848743	chr5:96489999-96490000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545387368	chr5:96490038-96490039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201426954	chr5:96490117-96490118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115456613	chr5:96490176-96490177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527599207	chr5:96490196-96490197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs31003	chr5:96490262-96490263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75822411	chr5:96490272-96490273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188003185	chr5:96490308-96490309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577260595	chr5:96490341-96490342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535239380	chr5:96490346-96490347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531442606	chr5:96490441-96490442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139722354	chr5:96490469-96490470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547212619	chr5:96490480-96490481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180967767	chr5:96490513-96490514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539930102	chr5:96490543-96490544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185377306	chr5:96490558-96490559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549526143	chr5:96490612-96490613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201492321	chr5:96490660-96490661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55708719	chr5:96490661-96490662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576379646	chr5:96490662-96490663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397762392	chr5:96490671-96490672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377522753	chr5:96490689-96490690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571013043	chr5:96490705-96490706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141149340	chr5:96490727-96490728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146285914	chr5:96490741-96490742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552057182	chr5:96490752-96490753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541608503	chr5:96490758-96490759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115806319	chr5:96490759-96490760	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
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:96478400-96495200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:96478800-96495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:96484400-96495400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:96489200-96495200	Weak transcription	Stomach Smooth Muscle	stomach

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