Variant report

Variant	esv2763469
Chromosome Location	chr5:91759081-91812497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:91779439..91781347-chr5:91782518..91784817,2	K562	blood:
2	chr5:91778495..91780939-chr5:91782236..91784018,2	K562	blood:
3	chr5:91811520..91813034-chr5:91817854..91819415,2	K562	blood:
4	chr5:91779439..91781347-chr5:91782518..91784817,2	K562	blood:
5	chr5:91805164..91807960-chr5:91809997..91811964,3	K562	blood:
6	chr5:91805164..91807960-chr5:91809997..91811964,3	K562	blood:
7	chr5:91762515..91764966-chr5:91769953..91771637,2	K562	blood:
8	chr5:91762515..91764966-chr5:91769953..91771637,2	K562	blood:
9	chr5:91805701..91807960-chr5:91809997..91812004,2	K562	blood:
10	chr5:91805701..91807960-chr5:91809997..91812004,2	K562	blood:
11	chr5:91778495..91780939-chr5:91782236..91784018,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR98-15	chr5:91762381-91762524	ucscGeneNc_uc003kkb_1
2	lnc-GPR98-15	chr5:91765623-91768107	ucscGeneNc_uc003kkb_1
3	lnc-FAM172A-7	chr5:91767910-91767996	XLOC_004925

No data

Extended variants
information (count: 401 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376785043	chr5:91760407-91760408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562806240	chr5:91760434-91760435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576132798	chr5:91760442-91760443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545144562	chr5:91760483-91760484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191784278	chr5:91760495-91760496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527915199	chr5:91760539-91760540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527697304	chr5:91760548-91760549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547753573	chr5:91760577-91760578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561649813	chr5:91760615-91760616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142983344	chr5:91760635-91760636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368012754	chr5:91760642-91760643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10052520	chr5:91760661-91760662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146117198	chr5:91760702-91760703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538731776	chr5:91760830-91760831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183609003	chr5:91760855-91760856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544092272	chr5:91760912-91760913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4869411	chr5:91760978-91760979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534844794	chr5:91760998-91760999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539578395	chr5:91761014-91761015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73134929	chr5:91761043-91761044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556076238	chr5:91761174-91761175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139843495	chr5:91761187-91761188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376554444	chr5:91761220-91761221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556136032	chr5:91761222-91761223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576069195	chr5:91761278-91761279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545084530	chr5:91761357-91761358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34255094	chr5:91761372-91761373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565067421	chr5:91761381-91761382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572279867	chr5:91761394-91761395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186975841	chr5:91761412-91761413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561384617	chr5:91761419-91761420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530428234	chr5:91761437-91761438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550251322	chr5:91761438-91761439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535727064	chr5:91761439-91761440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563261160	chr5:91761446-91761447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199744609	chr5:91761455-91761456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191009525	chr5:91761468-91761469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372631026	chr5:91761476-91761477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565801585	chr5:91761506-91761507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572001421	chr5:91761562-91761563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528238186	chr5:91761597-91761598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570431214	chr5:91762409-91762410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113902260	chr5:91762428-91762429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs186670307	chr5:91762437-91762438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs191537735	chr5:91762438-91762439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs6896089	chr5:91762453-91762454	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144813959	chr5:91762479-91762480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554798041	chr5:91762480-91762481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183317112	chr5:91762510-91762511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148613973	chr5:91762524-91762525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	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
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91760400-91761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:91762800-91763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:91781000-91781800	Enhancers	Fetal Brain Male	brain
4	chr5:91790000-91790400	Enhancers	GM12878-XiMat	blood
5	chr5:91790600-91791200	Active TSS	GM12878-XiMat	blood
6	chr5:91791200-91792000	Enhancers	GM12878-XiMat	blood
7	chr5:91803400-91804000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:91803800-91804200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:91804000-91804200	ZNF genes & repeats	Aorta	Aorta
10	chr5:91804000-91804400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:91804000-91804600	Enhancers	Fetal Heart	heart
12	chr5:91804200-91804600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:91804200-91807000	Weak transcription	Aorta	Aorta
14	chr5:91810000-91810400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:91811600-91812000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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