Variant report

Variant	esv2069189
Chromosome Location	chr7:122456736-122462795
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	chr7:122462747..122464658-chr7:122468134..122470780,2	MCF-7	breast:

Extended variants
information (count: 313 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571844196	chr7:122456767-122456768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569309161	chr7:122456792-122456793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536926860	chr7:122456837-122456838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138301983	chr7:122456871-122456872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556554740	chr7:122456924-122456925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373604366	chr7:122456926-122456927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567313394	chr7:122456935-122456936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188769801	chr7:122456940-122456941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552753810	chr7:122456941-122456942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13311063	chr7:122456955-122456956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544875475	chr7:122456958-122456959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13311198	chr7:122456961-122456962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575436033	chr7:122456977-122456978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577291563	chr7:122456984-122456985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13245159	chr7:122456997-122456998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76024358	chr7:122456999-122457000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563692505	chr7:122457011-122457012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10250375	chr7:122457027-122457028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543151552	chr7:122457029-122457030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538385781	chr7:122457041-122457042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10234934	chr7:122457047-122457048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2652714	chr7:122457078-122457079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13311506	chr7:122457088-122457089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13311168	chr7:122457103-122457104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187165599	chr7:122457112-122457113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13311160	chr7:122457114-122457115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182521791	chr7:122457123-122457124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533985968	chr7:122457126-122457127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13311162	chr7:122457129-122457130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13311167	chr7:122457141-122457142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13311291	chr7:122457148-122457149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535837001	chr7:122457152-122457153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13311293	chr7:122457173-122457174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13311222	chr7:122457216-122457217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575218552	chr7:122457218-122457219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13311224	chr7:122457225-122457226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544547400	chr7:122457249-122457250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148421720	chr7:122457254-122457255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377136065	chr7:122457256-122457257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575479866	chr7:122457364-122457365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201706153	chr7:122457384-122457385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544518166	chr7:122457385-122457386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539859998	chr7:122457389-122457390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561639341	chr7:122457426-122457427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144047089	chr7:122457444-122457445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574121828	chr7:122457454-122457455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542652603	chr7:122457496-122457497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185959157	chr7:122457498-122457499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146409113	chr7:122457504-122457505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555791431	chr7:122457508-122457509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122444200-122483800	Weak transcription	Left Ventricle	heart
2	chr7:122444400-122465800	Weak transcription	HepG2	liver
3	chr7:122455200-122474400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:122461400-122461600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:122461600-122468800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:122461800-122474000	Weak transcription	Stomach Mucosa	stomach

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