Variant report

Variant	esv3337048
Chromosome Location	chr3:99694870-99695337
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	chr3:99695276..99697068-chr3:99707515..99710288,2	MCF-7	breast:
2	chr3:99693171..99696076-chr3:99698445..99701698,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190035710	chr3:99694909-99694910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559727289	chr3:99694918-99694919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570575607	chr3:99694966-99694967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530315093	chr3:99694971-99694972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183302157	chr3:99694972-99694973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555502446	chr3:99694989-99694990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534742425	chr3:99695007-99695008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548514173	chr3:99695008-99695009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553008403	chr3:99695043-99695044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187953942	chr3:99695074-99695075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537317082	chr3:99695075-99695076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377138196	chr3:99695132-99695133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145074584	chr3:99695138-99695139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192043626	chr3:99695139-99695140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575170008	chr3:99695143-99695144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368905064	chr3:99695200-99695201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149102214	chr3:99695226-99695227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73859912	chr3:99695253-99695254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183687493	chr3:99695260-99695261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572881527	chr3:99695270-99695271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567311530	chr3:99695286-99695287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540376147	chr3:99695309-99695310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99677400-99696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:99679600-99697000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:99687200-99695200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99689200-99697400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:99689800-99702000	Weak transcription	Primary T cells from cord blood	blood
6	chr3:99690600-99697400	Weak transcription	Psoas Muscle	Psoas
7	chr3:99693000-99699600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:99694200-99699800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:99694400-99699600	Weak transcription	Left Ventricle	heart
10	chr3:99694800-99695200	Weak transcription	Fetal Intestine Small	intestine

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