Variant report

Variant	esv3470595
Chromosome Location	chr5:99513835-99520364
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	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

Extended variants
information (count: 195 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150254658	chr5:99513844-99513845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201556979	chr5:99513902-99513903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76003638	chr5:99513903-99513904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34031469	chr5:99513904-99513905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35074636	chr5:99513906-99513907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12109233	chr5:99513907-99513908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572293634	chr5:99513950-99513951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116318897	chr5:99513960-99513961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187202919	chr5:99514058-99514059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577146363	chr5:99514121-99514122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544587627	chr5:99514145-99514146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76250201	chr5:99514160-99514161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562986130	chr5:99514195-99514196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12109854	chr5:99514200-99514201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189663793	chr5:99514209-99514210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182281143	chr5:99514214-99514215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138940792	chr5:99514219-99514220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552814653	chr5:99514220-99514221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116814023	chr5:99514244-99514245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188024087	chr5:99514273-99514274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549328378	chr5:99514287-99514288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116209206	chr5:99514291-99514292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536729582	chr5:99514294-99514295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143632902	chr5:99514344-99514345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12110153	chr5:99514358-99514359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12109763	chr5:99514364-99514365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193066609	chr5:99514368-99514369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558267033	chr5:99514406-99514407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576549148	chr5:99514424-99514425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12110159	chr5:99514439-99514440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12109326	chr5:99514447-99514448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184157824	chr5:99514475-99514476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538252407	chr5:99514515-99514516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372468145	chr5:99514525-99514526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556594163	chr5:99514561-99514562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541185606	chr5:99514567-99514568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115135315	chr5:99514586-99514587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75583265	chr5:99514609-99514610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560552446	chr5:99514610-99514611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572624956	chr5:99514629-99514630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546048004	chr5:99514637-99514638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564814138	chr5:99514638-99514639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553139027	chr5:99514665-99514666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188251142	chr5:99514684-99514685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73152810	chr5:99514725-99514726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561335542	chr5:99514734-99514735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78500687	chr5:99514744-99514745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138308790	chr5:99514748-99514749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574633158	chr5:99514753-99514754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192146957	chr5:99514762-99514763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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