Variant report

Variant	esv1808930
Chromosome Location	chr3:74985519-75051562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:74116070..74116803-chr3:75050321..75051115,3	MCF-7	breast:
2	chr3:73917560..73918578-chr3:75050342..75051099,4	MCF-7	breast:
3	chr3:74316601..74317358-chr3:75050152..75051148,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113805	chromatin interactions

Extended variants
information (count: 394 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7629942	chr3:74985519-74985520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115888465	chr3:74985532-74985533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143797149	chr3:74985561-74985562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534059693	chr3:74985579-74985580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571282616	chr3:74985580-74985581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140575107	chr3:74985591-74985592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4677433	chr3:74985609-74985610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191025703	chr3:74985767-74985768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368944461	chr3:74985780-74985781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546175986	chr3:74985839-74985840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114797803	chr3:74985856-74985857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182502925	chr3:74985873-74985874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574086333	chr3:74985879-74985880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544315699	chr3:74985918-74985919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565189224	chr3:74985944-74985945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187468213	chr3:74985948-74985949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533161484	chr3:74985956-74985957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545258824	chr3:74985970-74985971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190430363	chr3:74986000-74986001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76603977	chr3:75015841-75015842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115761669	chr3:75015863-75015864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554348224	chr3:75016017-75016018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111948518	chr3:75016077-75016078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75719914	chr3:75016098-75016099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557683020	chr3:75016170-75016171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146075186	chr3:75016172-75016173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559808840	chr3:75016190-75016191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185772556	chr3:75016330-75016331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62266819	chr3:75016331-75016332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536946984	chr3:75016389-75016390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558464437	chr3:75016403-75016404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190201710	chr3:75016456-75016457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538878240	chr3:75016499-75016500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368098552	chr3:75016500-75016501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74998115	chr3:75016547-75016548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566143523	chr3:75016550-75016551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138080010	chr3:75016586-75016587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149538286	chr3:75016587-75016588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144005428	chr3:75016612-75016613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550484519	chr3:75016615-75016616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374941125	chr3:75016678-75016679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565533648	chr3:75016764-75016765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569657252	chr3:75016809-75016810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34500413	chr3:75016815-75016816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532863448	chr3:75016860-75016861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148670874	chr3:75016915-75016916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566297785	chr3:75016920-75016921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545742757	chr3:75016927-75016928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11920209	chr3:75016942-75016943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs376636670	chr3:75016943-75016944	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:74985400-74986000	Enhancers	Fetal Brain Female	brain
2	chr3:75015800-75017000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:75021000-75021200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:75021000-75021200	ZNF genes & repeats	Pancreas	Pancrea
5	chr3:75028400-75030000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:75028600-75029000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:75028600-75029200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr3:75028600-75029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:75028600-75029800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:75028600-75029800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:75028600-75030000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:75028600-75030400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:75028600-75030600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:75028800-75029000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:75028800-75029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:75029000-75029200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:75029200-75029600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:75029600-75029800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:75029600-75030600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:75029600-75035600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:75030400-75035400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:75030600-75035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:75035000-75035800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:75035000-75036000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:75035200-75036000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:75035400-75035800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:75035400-75036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:75035600-75035800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:75040400-75041200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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