Variant report

Variant	esv3462600
Chromosome Location	chr3:144281437-144292669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149056323	chr3:144282712-144282713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530742276	chr3:144282722-144282723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550285136	chr3:144282725-144282726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143136154	chr3:144282754-144282755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535848947	chr3:144282787-144282788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376731082	chr3:144282793-144282794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11714685	chr3:144282799-144282800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565948146	chr3:144282807-144282808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540076494	chr3:144282809-144282810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2575193	chr3:144282841-144282842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367662171	chr3:144282862-144282863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576193321	chr3:144282954-144282955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188456409	chr3:144282992-144282993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115481002	chr3:144283011-144283012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573447713	chr3:144283046-144283047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76339495	chr3:144283058-144283059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138777683	chr3:144283059-144283060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372550186	chr3:144283092-144283093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527796381	chr3:144283095-144283096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548848727	chr3:144283124-144283125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77112428	chr3:144283164-144283165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35871428	chr3:144283184-144283185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73012753	chr3:144283201-144283202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141460481	chr3:144283205-144283206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568560295	chr3:144283231-144283232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529368694	chr3:144283287-144283288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73012756	chr3:144283302-144283303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61641065	chr3:144283333-144283334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539462185	chr3:144283338-144283339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377525788	chr3:144283346-144283347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191867895	chr3:144283382-144283383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570041019	chr3:144283387-144283388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147001029	chr3:144283389-144283390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555580102	chr3:144283435-144283436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573904693	chr3:144283493-144283494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35122629	chr3:144283504-144283505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546294426	chr3:144283542-144283543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138192275	chr3:144283556-144283557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184068919	chr3:144287800-144287801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6796913	chr3:144287811-144287812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566474913	chr3:144287823-144287824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148287889	chr3:144288044-144288045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78743597	chr3:144288047-144288048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543058393	chr3:144288065-144288066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535146997	chr3:144288072-144288073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372116233	chr3:144288105-144288106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547377852	chr3:144288124-144288125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141475266	chr3:144288140-144288141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534117867	chr3:144288141-144288142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112114243	chr3:144288166-144288167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144282600-144283600	Enhancers	HUVEC	blood vessel
2	chr3:144282800-144283400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:144282800-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:144287800-144289400	Enhancers	Fetal Lung	lung
5	chr3:144288800-144289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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