Variant report

Variant	esv275190
Chromosome Location	chr3:60472410-60477642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
2	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
3	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
4	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs415832	chr3:60472410-60472411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571144739	chr3:60472412-60472413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567845816	chr3:60472450-60472451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376460748	chr3:60472456-60472457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1531334	chr3:60472481-60472482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs578215510	chr3:60472483-60472484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115700913	chr3:60472488-60472489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74752353	chr3:60472500-60472501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543481849	chr3:60472504-60472505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562986833	chr3:60472521-60472522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530304938	chr3:60472537-60472538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542676567	chr3:60472555-60472556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5849369	chr3:60472583-60472584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398091486	chr3:60472585-60472586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373569519	chr3:60472594-60472595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141645972	chr3:60472604-60472605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74621770	chr3:60472618-60472619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2362888	chr3:60472650-60472651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2362889	chr3:60472673-60472674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs410072	chr3:60472710-60472711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs114682647	chr3:60472715-60472716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77255677	chr3:60472749-60472750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs409432	chr3:60472755-60472756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs409440	chr3:60472765-60472766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2362892	chr3:60472815-60472816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376575878	chr3:60472876-60472877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1447972	chr3:60472883-60472884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535219300	chr3:60472907-60472908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs409769	chr3:60472909-60472910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553248408	chr3:60472949-60472950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2362894	chr3:60472970-60472971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs438501	chr3:60473010-60473011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4485674	chr3:60473029-60473030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2734352	chr3:60473033-60473034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180745271	chr3:60473055-60473056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542639404	chr3:60473075-60473076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545674366	chr3:60473083-60473084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373359213	chr3:60473087-60473088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572961447	chr3:60473168-60473169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145845504	chr3:60473191-60473192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138737010	chr3:60473206-60473207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71313774	chr3:60473213-60473214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577787436	chr3:60473251-60473252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9861820	chr3:60473265-60473266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9824052	chr3:60473289-60473290	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530518196	chr3:60473297-60473298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17063274	chr3:60473310-60473311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560874986	chr3:60473362-60473363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183670453	chr3:60473363-60473364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17063275	chr3:60473370-60473371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
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
Breast cancer	21785460	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
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60472200-60472800	Enhancers	Fetal Intestine Small	intestine
2	chr3:60472400-60473200	Weak transcription	Fetal Intestine Large	intestine
3	chr3:60472800-60473800	Weak transcription	Fetal Intestine Small	intestine
4	chr3:60473200-60473800	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:60473200-60474400	Enhancers	Fetal Intestine Large	intestine
6	chr3:60473400-60473800	Enhancers	Fetal Heart	heart
7	chr3:60473800-60474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:60473800-60474400	Enhancers	Gastric	stomach
9	chr3:60474000-60474200	Enhancers	Fetal Intestine Small	intestine

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