Variant report

Variant	esv3346852
Chromosome Location	chr7:122284241-122287089
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	chr7:122284715..122286410-chr7:122287702..122289209,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs570982819	chr7:122284258-122284259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539637608	chr7:122284292-122284293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375342406	chr7:122284301-122284302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556450426	chr7:122284317-122284318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569970392	chr7:122284325-122284326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554106780	chr7:122284344-122284345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113847393	chr7:122284415-122284416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138107344	chr7:122284433-122284434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373117979	chr7:122284437-122284438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10257455	chr7:122284445-122284446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571992788	chr7:122284459-122284460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73435765	chr7:122284477-122284478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148024187	chr7:122284495-122284496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373551722	chr7:122284501-122284502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56166405	chr7:122284503-122284504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554051561	chr7:122284516-122284517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141737919	chr7:122284545-122284546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184185594	chr7:122284551-122284552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573952631	chr7:122284628-122284629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542220711	chr7:122284630-122284631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150575524	chr7:122284653-122284654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527661780	chr7:122284730-122284731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188513294	chr7:122284746-122284747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564566403	chr7:122284795-122284796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566485835	chr7:122284814-122284815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538760477	chr7:122284859-122284860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78570909	chr7:122284863-122284864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77246901	chr7:122284938-122284939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535780837	chr7:122284939-122284940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549631936	chr7:122284973-122284974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143932775	chr7:122285012-122285013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534601319	chr7:122285095-122285096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554753083	chr7:122285128-122285129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181725424	chr7:122285171-122285172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577765618	chr7:122285200-122285201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184515019	chr7:122285208-122285209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537264830	chr7:122285237-122285238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557155200	chr7:122285247-122285248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573861705	chr7:122285252-122285253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572134213	chr7:122285259-122285260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111280461	chr7:122285263-122285264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572360367	chr7:122285279-122285280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147239936	chr7:122285280-122285281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201301272	chr7:122285285-122285286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571379792	chr7:122285288-122285289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202008854	chr7:122285294-122285295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200233722	chr7:122285300-122285301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3034541	chr7:122285301-122285302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112572747	chr7:122285302-122285303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564264638	chr7:122285304-122285305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122269800-122288000	Weak transcription	HepG2	liver
2	chr7:122278600-122288200	Weak transcription	Gastric	stomach

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