Variant report

Variant	esv3363313
Chromosome Location	chr3:146075716-146081641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 298 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147878556	chr3:146075719-146075720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35293320	chr3:146075733-146075734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184535045	chr3:146075762-146075763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113470470	chr3:146075767-146075768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552479799	chr3:146075779-146075780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13071170	chr3:146075790-146075791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13070731	chr3:146075799-146075800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375099088	chr3:146075832-146075833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556009049	chr3:146075844-146075845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574429903	chr3:146075852-146075853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145430527	chr3:146075874-146075875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553774264	chr3:146075876-146075877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189468357	chr3:146075925-146075926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571683684	chr3:146075936-146075937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540556842	chr3:146075937-146075938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377068984	chr3:146075948-146075949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149187543	chr3:146075960-146075961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2867087	chr3:146076016-146076017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562851102	chr3:146076019-146076020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150950897	chr3:146076032-146076033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371473710	chr3:146076038-146076039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374935797	chr3:146076039-146076040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560500155	chr3:146076041-146076042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140923703	chr3:146076045-146076046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144573749	chr3:146076046-146076047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181800339	chr3:146076054-146076055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114078179	chr3:146076059-146076060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549910158	chr3:146076096-146076097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568156287	chr3:146076097-146076098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535561932	chr3:146076107-146076108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377046609	chr3:146076123-146076124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112652408	chr3:146076147-146076148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539001300	chr3:146076149-146076150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558845806	chr3:146076153-146076154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2867086	chr3:146076156-146076157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544563758	chr3:146076164-146076165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144054545	chr3:146076190-146076191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571892713	chr3:146076199-146076200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374047119	chr3:146076200-146076201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542349207	chr3:146076218-146076219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560528745	chr3:146076225-146076226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140772981	chr3:146076244-146076245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373963786	chr3:146076252-146076253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143111546	chr3:146076270-146076271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186488932	chr3:146076276-146076277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377614553	chr3:146076277-146076278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532659457	chr3:146076301-146076302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531664573	chr3:146076338-146076339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551260219	chr3:146076341-146076342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549807252	chr3:146076358-146076359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146072800-146077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:146077200-146079200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr3:146077200-146079400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:146077200-146081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:146077400-146079000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr3:146078800-146079200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:146079400-146080800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:146080400-146080800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:146081000-146081200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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