Variant report

Variant	esv3351048
Chromosome Location	chr7:116915619-116915869
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	chr7:116900629..116902783-chr7:116915433..116917547,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537944130	chr7:116915625-116915626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547924123	chr7:116915646-116915647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557276049	chr7:116915653-116915654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3735646	chr7:116915684-116915685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189220492	chr7:116915691-116915692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199747282	chr7:116915703-116915704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192169517	chr7:116915708-116915709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573177825	chr7:116915759-116915760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541966835	chr7:116915776-116915777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11973869	chr7:116915783-116915784	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149070989	chr7:116915786-116915787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57089859	chr7:116915787-116915788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185131771	chr7:116915822-116915823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551003614	chr7:116915823-116915824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539753305	chr7:116915863-116915864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	20164919	CNVD
Congenital bilateral absence of the vas deferens	16973827	CNVD
Cystic fibrosis	16493442	CNVD
Cystic fibrosis	19324987	CNVD
Azoospermia	17448246	CNVD
Congenital bilateral absence of the vas deferens	17448246	CNVD
Infertility	18720745	CNVD
infertile	18720745	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116909600-116920400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:116914600-116918000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:116914600-116918200	Weak transcription	Placenta	Placenta
4	chr7:116915000-116919600	Strong transcription	Fetal Lung	lung
5	chr7:116915400-116917400	Weak transcription	NHDF-Ad	bronchial
6	chr7:116915400-116918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:116915400-116920000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:116915400-116920000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:116915400-116920000	Weak transcription	NHLF	lung
10	chr7:116915600-116917400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:116915800-116920000	Weak transcription	Right Atrium	heart

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