Variant report

Variant	esv3516717
Chromosome Location	chr7:102488623-102489131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575973516	chr7:102488730-102488731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543311604	chr7:102488819-102488820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6977012	chr7:102488822-102488823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71572204	chr7:102488864-102488865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576924782	chr7:102488867-102488868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571539834	chr7:102488871-102488872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560407734	chr7:102488928-102488929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527769760	chr7:102488929-102488930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111541245	chr7:102488985-102488986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13242572	chr7:102489003-102489004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112611457	chr7:102489004-102489005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112537810	chr7:102489005-102489006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59060531	chr7:102489049-102489050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79669749	chr7:102489058-102489059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17136106	chr7:102489118-102489119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs56111642	chr7:102489120-102489121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561262941	chr7:102489124-102489125	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102470000-102490200	Weak transcription	Gastric	stomach
2	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
3	chr7:102470800-102493200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:102471800-102500000	Weak transcription	Left Ventricle	heart
5	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:102478000-102489200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:102478200-102500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:102478200-102500000	Weak transcription	Ovary	ovary
9	chr7:102478800-102489600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:102478800-102492600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:102482800-102499600	Weak transcription	Fetal Lung	lung
12	chr7:102482800-102500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:102483000-102491200	Weak transcription	Fetal Stomach	stomach
14	chr7:102483400-102499600	Weak transcription	K562	blood

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