Variant report

Variant	esv3414985
Chromosome Location	chr3:160601206-160601758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570883620	chr3:160601246-160601247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539935131	chr3:160601286-160601287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553547017	chr3:160601315-160601316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190103942	chr3:160601324-160601325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6785844	chr3:160601327-160601328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555951936	chr3:160601437-160601438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565568667	chr3:160601469-160601470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575814350	chr3:160601471-160601472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544924427	chr3:160601495-160601496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528733772	chr3:160601589-160601590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56178934	chr3:160601598-160601599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182750324	chr3:160601658-160601659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568658257	chr3:160601669-160601670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562923118	chr3:160601676-160601677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36011243	chr3:160601688-160601689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544448781	chr3:160601698-160601699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75621526	chr3:160601707-160601708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78448608	chr3:160601708-160601709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187351930	chr3:160601717-160601718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373845428	chr3:160601748-160601749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160595600-160602000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:160596400-160603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:160597800-160601400	Weak transcription	Psoas Muscle	Psoas
4	chr3:160598000-160603400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:160601200-160602000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:160601400-160601600	Enhancers	Fetal Thymus	thymus
7	chr3:160601400-160601600	Enhancers	Left Ventricle	heart
8	chr3:160601400-160602600	Enhancers	Psoas Muscle	Psoas
9	chr3:160601600-160602200	Weak transcription	Fetal Thymus	thymus
10	chr3:160601600-160603200	Weak transcription	Left Ventricle	heart

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