Variant report

Variant	esv10384
Chromosome Location	chr7:110484747-110485512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202027392	chr7:110484750-110484751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529776532	chr7:110484780-110484781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112048801	chr7:110484787-110484788	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563311157	chr7:110484814-110484815	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368190681	chr7:110484828-110484829	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139846929	chr7:110484879-110484880	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571820062	chr7:110484912-110484913	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73419241	chr7:110484915-110484916	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189468060	chr7:110484925-110484926	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567423196	chr7:110484935-110484936	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551083522	chr7:110484945-110484946	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536396938	chr7:110484946-110484947	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2396280	chr7:110484983-110484984	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2396281	chr7:110484999-110485000	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538636124	chr7:110485058-110485059	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2396282	chr7:110485124-110485125	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566429391	chr7:110485145-110485146	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533793813	chr7:110485246-110485247	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372622599	chr7:110485284-110485285	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9886295	chr7:110485288-110485289	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541239332	chr7:110485330-110485331	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554760057	chr7:110485357-110485358	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs799618	chr7:110485378-110485379	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs143278782	chr7:110485440-110485441	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369291682	chr7:110485441-110485442	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13222191	chr7:110485505-110485506	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110480400-110486000	Weak transcription	Fetal Stomach	stomach
2	chr7:110482600-110484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:110483800-110485000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:110483800-110485000	Weak transcription	Fetal Lung	lung
5	chr7:110483800-110485400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:110484000-110485800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:110484000-110486000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:110484000-110486000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr7:110484200-110486000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:110484400-110485000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:110484400-110485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:110484400-110485200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:110484400-110485400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:110484600-110485000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:110484600-110485800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:110484800-110485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:110485000-110486200	Enhancers	Fetal Lung	lung
18	chr7:110485400-110485800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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