Variant report

Variant	esv999216
Chromosome Location	chr7:147007501-147008689
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	chr7:146993664..146995748-chr7:147006294..147008294,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532161996	chr7:147007521-147007522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1404706	chr7:147007540-147007541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113314163	chr7:147007541-147007542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537528898	chr7:147007542-147007543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10236390	chr7:147007556-147007557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536749440	chr7:147007559-147007560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553362803	chr7:147007564-147007565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114875848	chr7:147007572-147007573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181000635	chr7:147007601-147007602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559186781	chr7:147007654-147007655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57672524	chr7:147007663-147007664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1479838	chr7:147007664-147007665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538580529	chr7:147007701-147007702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17170409	chr7:147007712-147007713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573358289	chr7:147007742-147007743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542328104	chr7:147007749-147007750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554064378	chr7:147007757-147007758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1479839	chr7:147007770-147007771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs201355649	chr7:147007824-147007825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398095451	chr7:147007831-147007832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528065425	chr7:147007832-147007833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1479840	chr7:147007838-147007839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374095391	chr7:147007857-147007858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137934449	chr7:147007858-147007859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547622991	chr7:147007882-147007883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530876018	chr7:147007898-147007899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1525210	chr7:147007911-147007912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13243107	chr7:147007922-147007923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185184403	chr7:147007928-147007929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78530823	chr7:147007935-147007936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558902953	chr7:147007967-147007968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142354106	chr7:147007968-147007969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192029203	chr7:147007977-147007978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182199293	chr7:147008092-147008093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1525209	chr7:147008093-147008094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559660743	chr7:147008108-147008109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186783003	chr7:147008131-147008132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554705360	chr7:147008145-147008146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144569838	chr7:147008153-147008154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192034098	chr7:147008167-147008168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1525208	chr7:147008174-147008175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572894685	chr7:147008181-147008182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544987786	chr7:147008183-147008184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564732539	chr7:147008215-147008216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182876583	chr7:147008246-147008247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115463382	chr7:147008293-147008294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185581398	chr7:147008307-147008308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148276410	chr7:147008332-147008333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116702555	chr7:147008336-147008337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376390473	chr7:147008355-147008356	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146996400-147008000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:147002600-147008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:147008000-147008800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:147008000-147009000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:147008000-147009000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:147008400-147008800	Enhancers	Brain Hippocampus Middle	brain
7	chr7:147008400-147008800	Enhancers	Fetal Muscle Trunk	muscle

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