Variant report

Variant	esv3396303
Chromosome Location	chr7:87352350-87394627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87364971..87366565-chr7:87368760..87371193,2	MCF-7	breast:
2	chr7:87265939..87267557-chr7:87351505..87353964,2	MCF-7	breast:
3	chr7:87364971..87366565-chr7:87368760..87371193,2	MCF-7	breast:
4	chr7:87391516..87395464-chr7:87395726..87398529,3	MCF-7	breast:
5	chr7:87392119..87394274-chr7:87504265..87506461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075303	chromatin interactions
ENSG00000006634	chromatin interactions

Extended variants
information (count: 1233 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192154174	chr7:87352350-87352351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573747931	chr7:87352439-87352440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569346732	chr7:87352451-87352452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536838302	chr7:87352510-87352511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140359555	chr7:87352511-87352512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573345176	chr7:87352526-87352527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562286434	chr7:87352544-87352545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375723583	chr7:87352580-87352581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77881424	chr7:87352644-87352645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182164522	chr7:87352677-87352678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17149869	chr7:87352728-87352729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543779669	chr7:87352733-87352734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555846330	chr7:87352825-87352826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112699623	chr7:87352843-87352844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187663023	chr7:87352856-87352857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs976602	chr7:87352948-87352949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375382294	chr7:87352996-87352997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17329325	chr7:87353076-87353077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564191229	chr7:87353080-87353081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532561421	chr7:87353097-87353098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376925744	chr7:87353149-87353150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530828117	chr7:87353193-87353194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551914593	chr7:87353206-87353207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370367715	chr7:87353220-87353221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530256040	chr7:87353223-87353224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548697289	chr7:87353264-87353265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567090292	chr7:87353280-87353281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534100742	chr7:87353385-87353386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374126381	chr7:87353392-87353393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2373573	chr7:87353414-87353415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2373572	chr7:87353549-87353550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112705033	chr7:87353550-87353551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568455366	chr7:87353568-87353569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534825504	chr7:87353569-87353570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571013321	chr7:87353618-87353619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537458314	chr7:87353651-87353652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546682470	chr7:87353741-87353742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80217482	chr7:87353850-87353851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182419852	chr7:87353923-87353924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112212065	chr7:87353995-87353996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187083135	chr7:87354006-87354007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541554266	chr7:87354098-87354099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553569777	chr7:87354145-87354146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372024434	chr7:87354186-87354187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572221115	chr7:87354190-87354191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545651279	chr7:87354203-87354204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564408358	chr7:87354204-87354205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538802139	chr7:87354225-87354226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6962731	chr7:87354292-87354293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543728562	chr7:87354312-87354313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87332600-87360000	Weak transcription	Liver	Liver
2	chr7:87358600-87359000	Enhancers	Placenta	Placenta
3	chr7:87359000-87362800	Weak transcription	Placenta	Placenta
4	chr7:87360000-87360200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:87360200-87364400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:87362800-87363200	Enhancers	Placenta	Placenta
7	chr7:87363200-87364400	Weak transcription	Placenta	Placenta
8	chr7:87364400-87364800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:87364600-87364800	Enhancers	Placenta	Placenta
10	chr7:87364600-87365000	Enhancers	HMEC	breast
11	chr7:87364600-87365000	Enhancers	HUVEC	blood vessel
12	chr7:87368000-87368800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:87368000-87369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:87368000-87369800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:87368200-87368400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:87368200-87368600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:87368200-87368800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:87368600-87368800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:87368600-87370000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:87368800-87369000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:87368800-87376400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:87369000-87369400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:87369400-87369600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:87369600-87370200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:87370000-87370200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:87375000-87388200	Weak transcription	Liver	Liver
27	chr7:87376000-87376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:87376200-87377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:87376400-87376800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:87376400-87377000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr7:87376400-87377000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:87376400-87377200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:87376400-87377400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:87376400-87377400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr7:87376400-87377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:87376600-87376800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:87376600-87377400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:87376600-87377400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:87376800-87377000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:87377000-87377200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:87377000-87377400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:87377000-87377400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:87377000-87377400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:87377200-87377600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:87377400-87378000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:87377600-87377800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:87391000-87392400	Weak transcription	Liver	Liver

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