Variant report

Variant	esv3382187
Chromosome Location	chr7:103309035-103309397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103302157..103305081-chr7:103307428..103309222,2	K562	blood:
2	chr7:103305325..103307446-chr7:103308405..103311533,3	K562	blood:
3	chr7:103299093..103302989-chr7:103306962..103309461,4	K562	blood:
4	chr7:103308135..103310700-chr7:103389205..103391721,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572514239	chr7:103309041-103309042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542711977	chr7:103309045-103309046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192735452	chr7:103309079-103309080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561149857	chr7:103309085-103309086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575864686	chr7:103309123-103309124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543189294	chr7:103309127-103309128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564880533	chr7:103309134-103309135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184531321	chr7:103309161-103309162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371864284	chr7:103309183-103309184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151086930	chr7:103309184-103309185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139117463	chr7:103309206-103309207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71558646	chr7:103309226-103309227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547944071	chr7:103309246-103309247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375005064	chr7:103309294-103309295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75040779	chr7:103309320-103309321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10215917	chr7:103309353-103309354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572012500	chr7:103309379-103309380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557069316	chr7:103309390-103309391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103305000-103313400	Weak transcription	HepG2	liver
2	chr7:103308800-103309800	Enhancers	Pancreatic Islets	Pancreatic Islet

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