Variant report

Variant	esv1816156
Chromosome Location	chr5:117139928-117152947
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	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:
2	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560914651	chr5:117140409-117140410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575063677	chr5:117140410-117140411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548493003	chr5:117140417-117140418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372837445	chr5:117140441-117140442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7445723	chr5:117140584-117140585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78688705	chr5:117140599-117140600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139501209	chr5:117140618-117140619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188842086	chr5:117140646-117140647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114789173	chr5:117140649-117140650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192050274	chr5:117140656-117140657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4434417	chr5:117140663-117140664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536196789	chr5:117140674-117140675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550099458	chr5:117140706-117140707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569923196	chr5:117140720-117140721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538849771	chr5:117140762-117140763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77740301	chr5:117140771-117140772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145015014	chr5:117140778-117140779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534699500	chr5:117140820-117140821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184546933	chr5:117140883-117140884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147649884	chr5:117140893-117140894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543453638	chr5:117140897-117140898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188519189	chr5:117140913-117140914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191745294	chr5:117140927-117140928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577088920	chr5:117140937-117140938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114743213	chr5:117140952-117140953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4524549	chr5:117140985-117140986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528615452	chr5:117141096-117141097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548655517	chr5:117141115-117141116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561991406	chr5:117141144-117141145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184960248	chr5:117141154-117141155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575343950	chr5:117141160-117141161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149105691	chr5:117141193-117141194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550957963	chr5:117141229-117141230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569985291	chr5:117141271-117141272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532424236	chr5:117141283-117141284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145614043	chr5:117141302-117141303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552434282	chr5:117141315-117141316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371010321	chr5:117141317-117141318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143170541	chr5:117141357-117141358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189362983	chr5:117141378-117141379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554652557	chr5:117141392-117141393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545693139	chr5:117144808-117144809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147972055	chr5:117144845-117144846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199902609	chr5:117144874-117144875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369997546	chr5:117144878-117144879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199660737	chr5:117144879-117144880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565591965	chr5:117144920-117144921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73785276	chr5:117144941-117144942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145592872	chr5:117144981-117144982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560771680	chr5:117145000-117145001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117140400-117141200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:117140600-117141200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:117140600-117141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:117140800-117141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:117141000-117141400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:117144800-117145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:117144800-117145600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:117145400-117145600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:117148400-117149200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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