Variant report

Variant	esv2108306
Chromosome Location	chr3:144888275-144889106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549423667	chr3:144888289-144888290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561087902	chr3:144888327-144888328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147881067	chr3:144888352-144888353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116075107	chr3:144888353-144888354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546388474	chr3:144888354-144888355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531134139	chr3:144888376-144888377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148921818	chr3:144888377-144888378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79759576	chr3:144888396-144888397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575146948	chr3:144888461-144888462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575420640	chr3:144888465-144888466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7429523	chr3:144888500-144888501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7615187	chr3:144888537-144888538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571524186	chr3:144888546-144888547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554583058	chr3:144888587-144888588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572953860	chr3:144888632-144888633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148102681	chr3:144888783-144888784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192782230	chr3:144888816-144888817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58743165	chr3:144888874-144888875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184398180	chr3:144888903-144888904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368468338	chr3:144888910-144888911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545656979	chr3:144888987-144888988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57660447	chr3:144889006-144889007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548541072	chr3:144889029-144889030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150244194	chr3:144889042-144889043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560997264	chr3:144889047-144889048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76769973	chr3:144889058-144889059	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144887400-144888400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:144887600-144888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:144887600-144888600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:144887600-144890000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:144887800-144888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:144887800-144888400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:144887800-144888400	Enhancers	Fetal Heart	heart
8	chr3:144888000-144888400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:144888000-144888400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:144888000-144888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:144888000-144888400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:144888000-144888400	Enhancers	Aorta	Aorta
13	chr3:144888000-144888400	Enhancers	Brain Angular Gyrus	brain

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