Variant report

Variant	esv3462571
Chromosome Location	chr3:140193795-140194015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140188983..140190979-chr3:140192938..140195327,2	MCF-7	breast:
2	chr3:140193445..140195092-chr3:140197152..140199852,2	K562	blood:
3	chr3:140185147..140188078-chr3:140189944..140194087,5	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143825538	chr3:140193795-140193796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535259449	chr3:140193808-140193809	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537028068	chr3:140193810-140193811	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72987133	chr3:140193828-140193829	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572199232	chr3:140193855-140193856	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184518073	chr3:140193860-140193861	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188492855	chr3:140193884-140193885	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557769858	chr3:140193910-140193911	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191854562	chr3:140193947-140193948	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543537970	chr3:140193959-140193960	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375887875	chr3:140194009-140194010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184410744	chr3:140194011-140194012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386508427	chr3:140194014-140194015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140186600-140197800	Weak transcription	Adipose Nuclei	Adipose
2	chr3:140187600-140194800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:140188600-140195800	Weak transcription	Ovary	ovary
4	chr3:140192200-140219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:140192600-140197800	Strong transcription	HSMMtube	muscle
6	chr3:140193600-140193800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:140193800-140194000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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