Variant report

Variant	esv3477375
Chromosome Location	chr7:86231318-86245286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527986732	chr7:86231378-86231379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184055940	chr7:86231443-86231444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564818504	chr7:86231453-86231454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566807329	chr7:86231553-86231554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570197826	chr7:86231603-86231604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114141588	chr7:86231604-86231605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531785335	chr7:86231605-86231606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144365909	chr7:86231622-86231623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528005830	chr7:86231647-86231648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568175447	chr7:86231655-86231656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187004726	chr7:86231657-86231658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13241246	chr7:86231685-86231686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78139212	chr7:86231723-86231724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534081061	chr7:86231867-86231868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201656660	chr7:86231878-86231879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552151009	chr7:86231886-86231887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192036384	chr7:86231929-86231930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537593645	chr7:86232040-86232041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182867413	chr7:86232044-86232045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12704278	chr7:86232070-86232071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372971315	chr7:86232078-86232079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538259703	chr7:86232082-86232083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145627761	chr7:86232092-86232093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553780673	chr7:86232110-86232111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556990067	chr7:86232114-86232115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572104712	chr7:86232134-86232135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369922859	chr7:86232138-86232139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545806391	chr7:86232139-86232140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187111835	chr7:86232142-86232143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576683122	chr7:86232222-86232223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577110730	chr7:86232275-86232276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568991884	chr7:86232276-86232277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536437452	chr7:86232281-86232282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554833692	chr7:86232348-86232349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191615880	chr7:86232378-86232379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561994286	chr7:86232382-86232383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529328083	chr7:86232411-86232412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537283475	chr7:86232415-86232416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373307956	chr7:86232522-86232523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148915113	chr7:86232560-86232561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13244678	chr7:86232583-86232584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200924266	chr7:86232588-86232589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182410843	chr7:86232589-86232590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543984698	chr7:86232669-86232670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370854125	chr7:86232676-86232677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187949129	chr7:86232686-86232687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78630969	chr7:86232688-86232689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535526008	chr7:86232694-86232695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553876738	chr7:86232799-86232800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572175797	chr7:86232828-86232829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86230200-86231600	Enhancers	Brain Cingulate Gyrus	brain
2	chr7:86230600-86231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:86231000-86232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:86231000-86235000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:86231600-86231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:86232000-86232200	Enhancers	HUES48 Cell Line	embryonic stem cell

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