Variant report

Variant	esv3386514
Chromosome Location	chr7:78952766-78955214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:28170954..28172471-chr7:78954883..78956578,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575486585	chr7:78952794-78952795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60343760	chr7:78952801-78952802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73375151	chr7:78952817-78952818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115833973	chr7:78952839-78952840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533172507	chr7:78952874-78952875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60313821	chr7:78952907-78952908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10953835	chr7:78952979-78952980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs116554458	chr7:78953002-78953003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75231155	chr7:78953007-78953008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568369577	chr7:78953024-78953025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537381415	chr7:78953074-78953075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538550998	chr7:78953083-78953084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73375156	chr7:78953115-78953116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571663678	chr7:78953150-78953151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570454246	chr7:78953163-78953164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534211487	chr7:78953173-78953174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553956248	chr7:78953215-78953216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574093030	chr7:78953237-78953238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539047054	chr7:78953239-78953240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553047191	chr7:78953262-78953263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373203037	chr7:78953274-78953275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78421274	chr7:78953298-78953299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544374709	chr7:78953350-78953351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117461703	chr7:78953359-78953360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193176997	chr7:78953375-78953376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544553145	chr7:78953411-78953412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71095395	chr7:78953475-78953476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372677277	chr7:78953483-78953484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398005238	chr7:78953490-78953491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564419105	chr7:78953494-78953495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542429458	chr7:78953545-78953546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183650396	chr7:78953570-78953571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139631576	chr7:78953608-78953609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574548592	chr7:78953706-78953707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541760262	chr7:78953715-78953716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558104308	chr7:78953717-78953718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544892129	chr7:78953723-78953724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12536914	chr7:78953727-78953728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543132986	chr7:78953730-78953731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561910126	chr7:78953753-78953754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530701107	chr7:78953754-78953755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550927476	chr7:78953755-78953756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570620689	chr7:78953756-78953757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374093210	chr7:78953757-78953758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527278370	chr7:78953770-78953771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532963989	chr7:78953782-78953783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577980882	chr7:78953790-78953791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546231945	chr7:78953792-78953793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200180669	chr7:78953793-78953794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201176173	chr7:78953794-78953795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78947400-78955200	Weak transcription	Aorta	Aorta
2	chr7:78947400-78956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:78949400-78954800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:78954400-78954600	Enhancers	Psoas Muscle	Psoas
5	chr7:78954600-78955000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:78954600-78955000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:78954800-78955400	Enhancers	Pancreatic Islets	Pancreatic Islet

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