Variant report

Variant	esv3475370
Chromosome Location	chr7:118830241-118836089
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	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:
2	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530916251	chr7:118830250-118830251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543998668	chr7:118830258-118830259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536771792	chr7:118830305-118830306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78996573	chr7:118830354-118830355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73718786	chr7:118830383-118830384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144795520	chr7:118830406-118830407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375627144	chr7:118830423-118830424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138470661	chr7:118830425-118830426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367883049	chr7:118830426-118830427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370452766	chr7:118830470-118830471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143092983	chr7:118830471-118830472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145939744	chr7:118830473-118830474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187865759	chr7:118830556-118830557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139832708	chr7:118830581-118830582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546873909	chr7:118830628-118830629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560879810	chr7:118830659-118830660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190766342	chr7:118830765-118830766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573288872	chr7:118830766-118830767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568537765	chr7:118830838-118830839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79037285	chr7:118830875-118830876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150732139	chr7:118830922-118830923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73480810	chr7:118830958-118830959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116623145	chr7:118830985-118830986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552874417	chr7:118831021-118831022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139105673	chr7:118831022-118831023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538575265	chr7:118831042-118831043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558854877	chr7:118831142-118831143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111685005	chr7:118831162-118831163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373895354	chr7:118831174-118831175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183001667	chr7:118831207-118831208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187808060	chr7:118831216-118831217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147830337	chr7:118831239-118831240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73480812	chr7:118831247-118831248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112506072	chr7:118831249-118831250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574826858	chr7:118831377-118831378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540851479	chr7:118831388-118831389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145024330	chr7:118831415-118831416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532706990	chr7:118831421-118831422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192915125	chr7:118831465-118831466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184418333	chr7:118831490-118831491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58746646	chr7:118831539-118831540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61400273	chr7:118831547-118831548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567057890	chr7:118831551-118831552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535943673	chr7:118831567-118831568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546645144	chr7:118831665-118831666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566561935	chr7:118831705-118831706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370808341	chr7:118831819-118831820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111867373	chr7:118831835-118831836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575606325	chr7:118831857-118831858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187474678	chr7:118831880-118831881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118828200-118832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118835800-118836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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