Variant report

Variant	esv2761114
Chromosome Location	chr7:85510250-85525004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:85518932..85520222-chr7:86098724..86099479,6	MCF-7	breast:
2	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:
3	chr7:85519463..85520587-chr7:86098657..86099580,4	MCF-7	breast:
4	chr7:85522405..85523206-chr7:86098665..86099240,2	MCF-7	breast:
5	chr7:85519420..85520975-chr7:86097643..86099272,2	MCF-7	breast:
6	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12538617	chr7:85513232-85513233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528476816	chr7:85513237-85513238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540315191	chr7:85513255-85513256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12530636	chr7:85513270-85513271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12535825	chr7:85513358-85513359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536076056	chr7:85513359-85513360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550678666	chr7:85513410-85513411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10269970	chr7:85513434-85513435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141935898	chr7:85513469-85513470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78177110	chr7:85513475-85513476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10499895	chr7:85513479-85513480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181003292	chr7:85513524-85513525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558263543	chr7:85513529-85513530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12530694	chr7:85513531-85513532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12704199	chr7:85513534-85513535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185234955	chr7:85513589-85513590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191224114	chr7:85513687-85513688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181939185	chr7:85513718-85513719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12530752	chr7:85513726-85513727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12535967	chr7:85513731-85513732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77427191	chr7:85513745-85513746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373576815	chr7:85513747-85513748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71539328	chr7:85513749-85513750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71539329	chr7:85513751-85513752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370504118	chr7:85513753-85513754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375355537	chr7:85513755-85513756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71539330	chr7:85513757-85513758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6966367	chr7:85513759-85513760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71885210	chr7:85513761-85513762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558836007	chr7:85513768-85513769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145657711	chr7:85513780-85513781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530718608	chr7:85513789-85513790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374760015	chr7:85513813-85513814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548951383	chr7:85513851-85513852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4541830	chr7:85513870-85513871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567798423	chr7:85513874-85513875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528333871	chr7:85513884-85513885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546931970	chr7:85513896-85513897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113938248	chr7:85513947-85513948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570705275	chr7:85513960-85513961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538673044	chr7:85513997-85513998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550687173	chr7:85513998-85513999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200464318	chr7:85514006-85514007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568908356	chr7:85514014-85514015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386715441	chr7:85514031-85514032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536349885	chr7:85514032-85514033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200079106	chr7:85514033-85514034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201108852	chr7:85514036-85514037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28587803	chr7:85514062-85514063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368340293	chr7:85514075-85514076	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85513200-85514800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:85513400-85514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:85513600-85514600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:85513800-85514200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:85513800-85514200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:85513800-85514600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:85516400-85516600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:85517000-85517400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:85522600-85523200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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