Variant report

Variant	esv3370609
Chromosome Location	chr7:110680266-110681464
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	chr7:110679780..110681548-chr7:110685158..110686912,2	K562	blood:
2	chr7:110641707..110643850-chr7:110679248..110680877,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186407514	chr7:110680266-110680267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537555389	chr7:110680274-110680275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565255293	chr7:110680282-110680283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527750312	chr7:110680317-110680318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547480421	chr7:110680323-110680324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567601409	chr7:110680358-110680359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555545811	chr7:110680384-110680385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574064689	chr7:110680562-110680563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192149148	chr7:110680669-110680670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564087285	chr7:110680682-110680683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570881436	chr7:110680734-110680735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34024061	chr7:110680771-110680772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569551293	chr7:110680911-110680912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199678466	chr7:110680959-110680960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180960734	chr7:110681023-110681024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538426912	chr7:110681085-110681086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558690266	chr7:110681091-110681092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150964385	chr7:110681163-110681164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577558788	chr7:110681166-110681167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374684709	chr7:110681213-110681214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544864174	chr7:110681300-110681301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185901616	chr7:110681315-110681316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191230589	chr7:110681348-110681349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10235471	chr7:110681377-110681378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110671600-110681600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:110672800-110683400	Weak transcription	HepG2	liver
3	chr7:110675800-110681000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:110678600-110681400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:110681000-110681800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:110681000-110682000	Enhancers	Primary T cells from cord blood	blood
7	chr7:110681200-110681800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:110681400-110681800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr7:110681400-110681800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:110681400-110681800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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