Variant report

Variant	esv3405498
Chromosome Location	chr5:91928296-91932894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559288230	chr5:91928300-91928301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572780642	chr5:91928334-91928335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574233366	chr5:91928341-91928342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181409649	chr5:91928367-91928368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139160472	chr5:91928413-91928414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548366412	chr5:91928464-91928465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183977684	chr5:91928478-91928479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529766013	chr5:91928481-91928482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543138160	chr5:91928514-91928515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188655168	chr5:91928539-91928540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542973740	chr5:91928562-91928563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532172798	chr5:91928581-91928582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528461318	chr5:91928801-91928802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192413268	chr5:91928833-91928834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143083547	chr5:91928840-91928841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181984598	chr5:91928842-91928843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147512116	chr5:91928871-91928872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35152354	chr5:91928970-91928971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559204552	chr5:91929004-91929005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572742528	chr5:91929096-91929097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112918284	chr5:91929117-91929118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139352025	chr5:91929126-91929127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555279151	chr5:91929311-91929312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114863554	chr5:91929376-91929377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150073410	chr5:91929380-91929381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75300703	chr5:91929405-91929406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187026090	chr5:91929415-91929416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191412210	chr5:91929455-91929456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559146419	chr5:91929499-91929500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115608179	chr5:91929517-91929518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182880136	chr5:91929524-91929525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377209924	chr5:91929540-91929541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187168178	chr5:91929658-91929659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562054283	chr5:91929686-91929687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530035340	chr5:91929727-91929728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375022668	chr5:91929762-91929763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190046738	chr5:91929772-91929773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367965785	chr5:91929778-91929779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144377474	chr5:91929786-91929787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148411712	chr5:91929788-91929789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552774828	chr5:91929820-91929821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566254241	chr5:91929830-91929831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182292743	chr5:91929863-91929864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17593277	chr5:91929877-91929878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34169901	chr5:91929881-91929882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377085280	chr5:91929944-91929945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375596346	chr5:91929946-91929947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536603031	chr5:91929963-91929964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550323320	chr5:91929987-91929988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556558427	chr5:91930029-91930030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91927600-91928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:91928800-91930000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:91929200-91930000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:91929200-91930200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:91929200-91930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:91929200-91930600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:91929400-91930200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:91929400-91930400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:91929600-91930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:91929800-91930200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:91929800-91930200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:91931200-91931400	Enhancers	Gastric	stomach
13	chr5:91931200-91931600	Enhancers	Ovary	ovary

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