Variant report

Variant	esv3438461
Chromosome Location	chr5:101045102-101064682
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	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
2	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:

Extended variants
information (count: 247 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138828747	chr5:101053637-101053638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530155348	chr5:101053737-101053738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548749196	chr5:101053801-101053802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548560967	chr5:101053812-101053813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73781036	chr5:101053815-101053816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534255465	chr5:101053868-101053869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558770080	chr5:101053890-101053891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150768638	chr5:101053932-101053933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537642632	chr5:101054032-101054033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537265232	chr5:101054076-101054077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536751142	chr5:101054084-101054085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186667988	chr5:101054088-101054089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114351471	chr5:101054097-101054098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138105260	chr5:101054099-101054100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367744375	chr5:101054118-101054119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56237412	chr5:101054120-101054121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571825128	chr5:101054145-101054146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72770530	chr5:101054152-101054153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545916841	chr5:101054164-101054165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192022756	chr5:101054290-101054291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577412189	chr5:101054303-101054304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56723655	chr5:101054306-101054307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149530444	chr5:101054310-101054311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563204137	chr5:101054354-101054355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535285065	chr5:101054367-101054368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530368549	chr5:101054426-101054427	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371943310	chr5:101054447-101054448	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368198085	chr5:101054453-101054454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576905457	chr5:101054471-101054472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571984850	chr5:101054482-101054483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552689335	chr5:101054502-101054503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557521892	chr5:101054506-101054507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75576872	chr5:101054515-101054516	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74978262	chr5:101054516-101054517	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570849817	chr5:101054540-101054541	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371320286	chr5:101054551-101054552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549663887	chr5:101054587-101054588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568035403	chr5:101054597-101054598	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542777962	chr5:101054604-101054605	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535330911	chr5:101054606-101054607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553634605	chr5:101054638-101054639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571737169	chr5:101054650-101054651	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374042225	chr5:101054651-101054652	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557874512	chr5:101054693-101054694	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs145946108	chr5:101054701-101054702	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544790910	chr5:101054773-101054774	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181795984	chr5:101054846-101054847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186415098	chr5:101054851-101054852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190125685	chr5:101054874-101054875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560766219	chr5:101054895-101054896	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101053600-101055200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:101053600-101055200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:101053800-101055000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:101054000-101054400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:101054000-101055400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:101054400-101054800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:101054400-101055000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:101054600-101055200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:101054600-101055400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:101054600-101055400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:101054800-101055200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:101055000-101058600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:101055200-101057800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:101055200-101057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:101055200-101057800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:101055200-101057800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:101055400-101058000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:101055400-101058000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:101057800-101058200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:101057800-101058400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:101057800-101058600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:101057800-101058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:101058000-101058400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:101058000-101058400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:101058000-101058600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:101058200-101059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:101058400-101059600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:101058600-101059600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:101059400-101059600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:101059600-101059800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:101059600-101059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:101064600-101064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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