Variant report

Variant	esv3443061
Chromosome Location	chr7:124298941-124301389
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	chr7:124282474..124284467-chr7:124298276..124301225,2	MCF-7	breast:
2	chr7:124270665..124272540-chr7:124297946..124299539,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570046886	chr7:124299015-124299016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544111186	chr7:124299054-124299055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34540422	chr7:124299061-124299062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529679170	chr7:124299064-124299065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111856463	chr7:124299090-124299091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570854337	chr7:124299101-124299102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35835460	chr7:124299149-124299150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560024716	chr7:124299242-124299243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2402738	chr7:124299246-124299247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114489038	chr7:124299275-124299276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552050080	chr7:124299280-124299281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575792949	chr7:124299306-124299307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571872004	chr7:124299318-124299319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35654149	chr7:124299340-124299341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556371056	chr7:124299404-124299405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531085249	chr7:124299406-124299407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551006069	chr7:124299420-124299421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570950047	chr7:124299423-124299424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567918303	chr7:124299435-124299436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535181160	chr7:124299452-124299453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553314706	chr7:124299507-124299508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111283510	chr7:124299527-124299528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550927217	chr7:124299565-124299566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372600935	chr7:124299620-124299621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182571525	chr7:124299797-124299798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562747132	chr7:124299803-124299804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530954014	chr7:124299806-124299807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575115194	chr7:124299819-124299820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150822984	chr7:124299848-124299849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371066913	chr7:124299849-124299850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10655524	chr7:124299851-124299852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201524637	chr7:124299857-124299858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567051088	chr7:124299860-124299861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554596384	chr7:124299865-124299866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574660064	chr7:124299872-124299873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200569830	chr7:124299883-124299884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577749774	chr7:124299897-124299898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200512088	chr7:124299903-124299904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376365617	chr7:124299905-124299906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74966332	chr7:124299906-124299907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369618064	chr7:124299912-124299913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560091681	chr7:124299917-124299918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532097448	chr7:124299918-124299919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545921941	chr7:124299919-124299920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552251039	chr7:124299921-124299922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62478262	chr7:124299922-124299923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541983383	chr7:124299925-124299926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374048416	chr7:124299926-124299927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541938749	chr7:124299927-124299928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570930078	chr7:124299928-124299929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124299000-124299200	Enhancers	Brain Hippocampus Middle	brain
2	chr7:124299200-124302600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:124300800-124301000	Enhancers	Brain Substantia Nigra	brain
4	chr7:124301000-124303800	Weak transcription	Brain Substantia Nigra	brain

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