Variant report

Variant	esv3515149
Chromosome Location	chr5:103374864-103376538
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	chr5:103375510..103378276-chr5:103379143..103380919,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531374342	chr5:103374896-103374897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143610471	chr5:103374922-103374923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553669452	chr5:103374985-103374986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576591145	chr5:103374986-103374987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545627287	chr5:103375006-103375007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545512123	chr5:103375047-103375048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562620976	chr5:103375048-103375049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12655758	chr5:103375063-103375064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527652762	chr5:103375066-103375067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138177111	chr5:103375067-103375068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182395873	chr5:103375068-103375069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527707842	chr5:103375103-103375104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548076410	chr5:103375110-103375111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186901434	chr5:103375126-103375127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372416662	chr5:103375127-103375128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191783860	chr5:103375141-103375142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550446736	chr5:103375187-103375188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568851484	chr5:103375211-103375212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377057837	chr5:103375246-103375247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554369366	chr5:103375307-103375308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141985718	chr5:103375324-103375325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541440460	chr5:103375339-103375340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553632629	chr5:103375377-103375378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562300841	chr5:103375410-103375411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545590498	chr5:103375428-103375429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555979332	chr5:103375459-103375460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62363585	chr5:103375464-103375465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181527995	chr5:103375492-103375493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185789980	chr5:103375533-103375534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190064385	chr5:103375541-103375542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561583869	chr5:103375542-103375543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564769052	chr5:103375606-103375607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182332220	chr5:103375625-103375626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186759456	chr5:103375633-103375634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563857093	chr5:103375651-103375652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551429131	chr5:103375656-103375657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138765333	chr5:103375691-103375692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548231033	chr5:103375693-103375694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568095320	chr5:103375718-103375719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533522734	chr5:103375742-103375743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547036279	chr5:103375743-103375744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570402731	chr5:103375749-103375750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150732449	chr5:103375820-103375821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566427222	chr5:103375851-103375852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576153489	chr5:103375859-103375860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67686311	chr5:103375913-103375914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555810370	chr5:103375940-103375941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138276353	chr5:103375994-103375995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192051262	chr5:103376047-103376048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564434744	chr5:103376088-103376089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103374600-103375800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:103374600-103378800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:103375800-103376200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:103376200-103377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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