Variant report

Variant	esv3345679
Chromosome Location	chr3:100595187-100595717
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	chr3:100595522..100598378-chr3:100600055..100603377,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140567949	chr3:100595229-100595230	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572060305	chr3:100595246-100595247	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535889950	chr3:100595255-100595256	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554108530	chr3:100595271-100595272	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575615426	chr3:100595285-100595286	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369208230	chr3:100595286-100595287	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370689046	chr3:100595308-100595309	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372796184	chr3:100595312-100595313	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543360597	chr3:100595324-100595325	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374948114	chr3:100595333-100595334	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369397710	chr3:100595334-100595335	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373245696	chr3:100595386-100595387	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191960195	chr3:100595400-100595401	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75841780	chr3:100595401-100595402	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367943264	chr3:100595467-100595468	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550635831	chr3:100595472-100595473	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116074850	chr3:100595481-100595482	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184381645	chr3:100595511-100595512	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117520015	chr3:100595536-100595537	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548687425	chr3:100595545-100595546	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149745947	chr3:100595549-100595550	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530923658	chr3:100595550-100595551	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186846178	chr3:100595558-100595559	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191876102	chr3:100595566-100595567	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539416168	chr3:100595588-100595589	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200982966	chr3:100595594-100595595	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13434191	chr3:100595596-100595597	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375838417	chr3:100595622-100595623	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534515991	chr3:100595631-100595632	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5851232	chr3:100595670-100595671	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1836987	chr3:100595700-100595701	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183598556	chr3:100595705-100595706	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100583400-100597400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:100583800-100603400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:100589200-100597600	Weak transcription	Adipose Nuclei	Adipose
4	chr3:100589200-100599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:100593200-100601600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:100593600-100595400	Enhancers	Osteobl	bone
7	chr3:100593600-100596800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:100594000-100595200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:100594400-100598000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:100594400-100599000	Weak transcription	Psoas Muscle	Psoas
11	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:100594600-100596400	Weak transcription	Small Intestine	intestine
13	chr3:100594600-100597400	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:100594600-100597800	Weak transcription	Fetal Lung	lung
15	chr3:100594600-100597800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:100594600-100598600	Weak transcription	HSMMtube	muscle
17	chr3:100594600-100598800	Weak transcription	NHLF	lung
18	chr3:100594600-100616800	Weak transcription	Ovary	ovary
19	chr3:100594800-100597800	Weak transcription	Fetal Stomach	stomach
20	chr3:100594800-100598000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:100594800-100598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:100594800-100598400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:100594800-100598600	Weak transcription	NHDF-Ad	bronchial
24	chr3:100594800-100599800	Weak transcription	Hela-S3	cervix
25	chr3:100595000-100598600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:100595200-100600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:100595400-100599200	Weak transcription	Osteobl	bone

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