Variant report

Variant	esv3377413
Chromosome Location	chr3:19300598-19304696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541618171	chr3:19300628-19300629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189867765	chr3:19300632-19300633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552519131	chr3:19300661-19300662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530710932	chr3:19300712-19300713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141173903	chr3:19300790-19300791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115330409	chr3:19300801-19300802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528525022	chr3:19300830-19300831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192825888	chr3:19300834-19300835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568533540	chr3:19300876-19300877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184505833	chr3:19300953-19300954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557229170	chr3:19301005-19301006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533683753	chr3:19301007-19301008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34804118	chr3:19301053-19301054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553327852	chr3:19301157-19301158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35389390	chr3:19301161-19301162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569485212	chr3:19301203-19301204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113351338	chr3:19301206-19301207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539725553	chr3:19301234-19301235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558056172	chr3:19301241-19301242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34904245	chr3:19301244-19301245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200208321	chr3:19301258-19301259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56173952	chr3:19301283-19301284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200436376	chr3:19301284-19301285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397762806	chr3:19301297-19301298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201047500	chr3:19301298-19301299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112512560	chr3:19301339-19301340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150715302	chr3:19301341-19301342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536129865	chr3:19301405-19301406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189260303	chr3:19301409-19301410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76425966	chr3:19301467-19301468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555997409	chr3:19301485-19301486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140197368	chr3:19301524-19301525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181861640	chr3:19301554-19301555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563328651	chr3:19301560-19301561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530768880	chr3:19301574-19301575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576256944	chr3:19301589-19301590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113316190	chr3:19301603-19301604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112259928	chr3:19301609-19301610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79959601	chr3:19301615-19301616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185048582	chr3:19301629-19301630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146384171	chr3:19301660-19301661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189036632	chr3:19301669-19301670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577136268	chr3:19301715-19301716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375556722	chr3:19301749-19301750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568470638	chr3:19301762-19301763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112970823	chr3:19301777-19301778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551085337	chr3:19301784-19301785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545162522	chr3:19301806-19301807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569328381	chr3:19301829-19301830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560100371	chr3:19301845-19301846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19293200-19303000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:19293200-19305600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:19296600-19301400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:19296800-19307200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:19300000-19300800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:19300000-19324200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:19300800-19309800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:19301400-19301600	Enhancers	Primary hematopoietic stem cells	blood

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