Variant report

Variant	esv3401450
Chromosome Location	chr3:134025265-134025767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
2	chr3:134025588..134027447-chr3:134198814..134200765,2	MCF-7	breast:
3	chr3:134023446..134026056-chr3:134203882..134206260,2	K562	blood:
4	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260633	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000214289	chromatin interactions
ENSG00000129055	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116086588	chr3:134025269-134025270	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs542761685	chr3:134025305-134025306	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs148929926	chr3:134025343-134025344	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs531236809	chr3:134025416-134025417	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs143634149	chr3:134025422-134025423	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs34688449	chr3:134025423-134025424	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148117570	chr3:134025466-134025467	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs188851253	chr3:134025496-134025497	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs79716725	chr3:134025500-134025501	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs34591691	chr3:134025512-134025513	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574639497	chr3:134025556-134025557	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190376394	chr3:134025581-134025582	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs9882640	chr3:134025588-134025589	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9827007	chr3:134025610-134025611	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116488579	chr3:134025635-134025636	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs182887530	chr3:134025642-134025643	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs532441255	chr3:134025651-134025652	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs566332305	chr3:134025663-134025664	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134015800-134026800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:134018400-134026800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134018600-134026800	Weak transcription	A549	lung
4	chr3:134018600-134027000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:134019000-134026800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:134020600-134026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:134022400-134027000	Weak transcription	Fetal Lung	lung
8	chr3:134023800-134032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:134025200-134031600	Weak transcription	Ovary	ovary
10	chr3:134025600-134030800	Weak transcription	Spleen	Spleen

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