Variant report

Variant	esv12625
Chromosome Location	chr7:97329371-97352156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551859259	chr7:97351217-97351218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191985957	chr7:97351232-97351233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184224374	chr7:97351237-97351238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557381840	chr7:97351260-97351261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188556234	chr7:97351261-97351262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536526461	chr7:97351271-97351272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139200907	chr7:97351346-97351347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180959718	chr7:97351349-97351350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60749432	chr7:97351353-97351354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544836735	chr7:97351373-97351374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558236252	chr7:97351395-97351396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574994138	chr7:97351433-97351434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372261842	chr7:97351440-97351441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114809383	chr7:97351453-97351454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560533301	chr7:97351458-97351459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73390366	chr7:97351510-97351511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184322832	chr7:97351585-97351586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1229440	chr7:97351589-97351590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1229439	chr7:97351623-97351624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs371754331	chr7:97351624-97351625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528685239	chr7:97351648-97351649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1229438	chr7:97351783-97351784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142592897	chr7:97351812-97351813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190832296	chr7:97351827-97351828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531009630	chr7:97351832-97351833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375356011	chr7:97351840-97351841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575909203	chr7:97351846-97351847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551021584	chr7:97351853-97351854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114476254	chr7:97351867-97351868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116093615	chr7:97351868-97351869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76807046	chr7:97351923-97351924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566602622	chr7:97351939-97351940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34354033	chr7:97351974-97351975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190566459	chr7:97352002-97352003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181445556	chr7:97352050-97352051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147614794	chr7:97352091-97352092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140654391	chr7:97352092-97352093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543921875	chr7:97352113-97352114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554208489	chr7:97352134-97352135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574381290	chr7:97352150-97352151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97351200-97351800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:97351800-97352800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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