Variant report

Variant	esv1818353
Chromosome Location	chr3:110724133-110750176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110731069..110732115-chr3:111056580..111057412,8	MCF-7	breast:
2	chr3:110731294..110732156-chr3:111031646..111032636,2	MCF-7	breast:
3	chr3:110731260..110732165-chr3:111056692..111057428,3	MCF-7	breast:
4	chr3:110731505..110732236-chr3:110971443..110972397,5	MCF-7	breast:
5	chr3:110729298..110729798-chr3:111132008..111132509,2	NB4	blood:
6	chr3:110731196..110732172-chr3:111258286..111259261,6	MCF-7	breast:
7	chr3:110731298..110731983-chr3:110798952..110799673,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543295104	chr3:110725348-110725349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563186782	chr3:110725351-110725352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185614839	chr3:110731435-110731436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190769910	chr3:110731461-110731462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141565872	chr3:110731475-110731476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537346566	chr3:110731476-110731477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181642953	chr3:110731529-110731530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187155315	chr3:110731544-110731545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188646461	chr3:110731564-110731565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181309152	chr3:110731565-110731566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549204164	chr3:110731572-110731573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569235548	chr3:110731592-110731593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78062677	chr3:110731596-110731597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552065365	chr3:110731694-110731695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571944649	chr3:110731739-110731740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534475395	chr3:110731751-110731752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75808891	chr3:110731780-110731781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567853671	chr3:110731802-110731803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111317646	chr3:110731814-110731815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555939379	chr3:110731816-110731817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575998651	chr3:110731838-110731839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544645726	chr3:110731857-110731858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185129143	chr3:110731859-110731860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572041629	chr3:110731868-110731869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547253514	chr3:110731881-110731882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540917762	chr3:110731894-110731895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147369016	chr3:110731895-110731896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560795259	chr3:110731918-110731919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6790828	chr3:110731925-110731926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189935642	chr3:110731937-110731938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372972857	chr3:110735238-110735239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377105781	chr3:110735262-110735263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539693152	chr3:110735266-110735267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562043717	chr3:110735323-110735324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577151027	chr3:110735344-110735345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546080207	chr3:110735407-110735408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574131950	chr3:110735424-110735425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528616254	chr3:110735550-110735551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544709883	chr3:110735551-110735552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6765948	chr3:110735555-110735556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561791686	chr3:110735571-110735572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530448435	chr3:110735593-110735594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183426685	chr3:110735598-110735599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534826346	chr3:110735655-110735656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570448575	chr3:110735687-110735688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76368053	chr3:110735725-110735726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546866741	chr3:110735727-110735728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142150217	chr3:110735728-110735729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535606902	chr3:110735744-110735745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554787875	chr3:110735759-110735760	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110725000-110725400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:110731400-110732000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:110731600-110731800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:110735200-110735600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:110735200-110736200	Enhancers	Fetal Stomach	stomach
6	chr3:110735400-110736200	Enhancers	Fetal Lung	lung
7	chr3:110746600-110747400	Enhancers	Dnd41	blood
8	chr3:110748600-110748800	Enhancers	Placenta	Placenta
9	chr3:110749200-110750400	Weak transcription	Placenta	Placenta
10	chr3:110749800-110751000	Enhancers	Fetal Intestine Large	intestine

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