Variant report

Variant	esv3419358
Chromosome Location	chr3:56073862-56075860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527719233	chr3:56073904-56073905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377060164	chr3:56073973-56073974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369679907	chr3:56074001-56074002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547463232	chr3:56074016-56074017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572723235	chr3:56074026-56074027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561478455	chr3:56074086-56074087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191702060	chr3:56074126-56074127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558268871	chr3:56074169-56074170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576757043	chr3:56074172-56074173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181544580	chr3:56074219-56074220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538968580	chr3:56074266-56074267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552479019	chr3:56074267-56074268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566018663	chr3:56074314-56074315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534653869	chr3:56074350-56074351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185955671	chr3:56074357-56074358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554267130	chr3:56074401-56074402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113732885	chr3:56074420-56074421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556168356	chr3:56074458-56074459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574479456	chr3:56074471-56074472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536709323	chr3:56074515-56074516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78019302	chr3:56074572-56074573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80178702	chr3:56074575-56074576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372864072	chr3:56074580-56074581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79389388	chr3:56074581-56074582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76930690	chr3:56074583-56074584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376111360	chr3:56074586-56074587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368385040	chr3:56074590-56074591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79899381	chr3:56074592-56074593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374692774	chr3:56074596-56074597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146212647	chr3:56074597-56074598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370088435	chr3:56074607-56074608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201321134	chr3:56074608-56074609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371531786	chr3:56074609-56074610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71099613	chr3:56074619-56074620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12494463	chr3:56074620-56074621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375742571	chr3:56074622-56074623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12491024	chr3:56074623-56074624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371882235	chr3:56074625-56074626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201293803	chr3:56074629-56074630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200138653	chr3:56074631-56074632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369310446	chr3:56074635-56074636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376146817	chr3:56074636-56074637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371546282	chr3:56074639-56074640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71996891	chr3:56074640-56074641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369209429	chr3:56074641-56074642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371846254	chr3:56074647-56074648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370124694	chr3:56074651-56074652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71617289	chr3:56074667-56074668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546001402	chr3:56074677-56074678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200414651	chr3:56074702-56074703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56071000-56084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:56071400-56075800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:56075400-56075800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:56075400-56076800	Enhancers	Fetal Heart	heart
5	chr3:56075800-56076400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:56075800-56078400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:56075800-56078600	Enhancers	HUES64 Cell Line	embryonic stem cell

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