Variant report

Variant	esv2362581
Chromosome Location	chr3:110677151-110677576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183741682	chr3:110677161-110677162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7644948	chr3:110677170-110677171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13098821	chr3:110677183-110677184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7623064	chr3:110677192-110677193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189123191	chr3:110677199-110677200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28454694	chr3:110677219-110677220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146939862	chr3:110677235-110677236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16857483	chr3:110677292-110677293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147468630	chr3:110677338-110677339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376422689	chr3:110677340-110677341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386664583	chr3:110677341-110677342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386664584	chr3:110677344-110677345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148202433	chr3:110677345-110677346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150568370	chr3:110677346-110677347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542281138	chr3:110677350-110677351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376194282	chr3:110677383-110677384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370573370	chr3:110677384-110677385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375270057	chr3:110677385-110677386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368130695	chr3:110677386-110677387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7634788	chr3:110677390-110677391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7623103	chr3:110677431-110677432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114866088	chr3:110677442-110677443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543707442	chr3:110677443-110677444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182811927	chr3:110677461-110677462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547609102	chr3:110677487-110677488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374660382	chr3:110677502-110677503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113853077	chr3:110677504-110677505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567013553	chr3:110677551-110677552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110670400-110682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110674800-110684600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:110676400-110677400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:110677200-110677600	Enhancers	Gastric	stomach
5	chr3:110677200-110678000	Enhancers	HepG2	liver
6	chr3:110677400-110677800	Enhancers	Fetal Muscle Leg	muscle
7	chr3:110677400-110678000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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