Variant report

Variant	esv2761083
Chromosome Location	chr7:109795715-109799082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116532783	chr7:109795723-109795724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554199678	chr7:109795727-109795728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140091410	chr7:109795761-109795762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376798844	chr7:109795792-109795793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1722057	chr7:109795798-109795799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562868188	chr7:109795809-109795810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576614060	chr7:109795843-109795844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529123284	chr7:109795844-109795845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113234578	chr7:109795847-109795848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191006060	chr7:109795848-109795849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527467286	chr7:109795852-109795853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547546289	chr7:109795889-109795890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561060777	chr7:109795911-109795912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2692418	chr7:109795939-109795940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549410000	chr7:109795940-109795941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569260244	chr7:109795941-109795942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538353290	chr7:109795979-109795980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1722058	chr7:109795988-109795989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369278360	chr7:109796081-109796082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565748240	chr7:109796194-109796195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369238469	chr7:109796200-109796201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372437162	chr7:109796206-109796207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2690690	chr7:109796220-109796221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554335886	chr7:109796232-109796233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182202163	chr7:109796243-109796244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188020059	chr7:109796254-109796255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192352860	chr7:109796262-109796263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377275543	chr7:109796277-109796278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184683553	chr7:109796282-109796283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571156423	chr7:109796283-109796284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545540053	chr7:109796302-109796303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188057943	chr7:109796320-109796321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115299681	chr7:109796325-109796326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550440997	chr7:109796334-109796335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540907403	chr7:109796365-109796366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13240749	chr7:109796432-109796433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536092576	chr7:109796433-109796434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529947257	chr7:109796476-109796477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192016557	chr7:109796554-109796555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544167852	chr7:109796613-109796614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1722060	chr7:109796623-109796624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184661588	chr7:109796766-109796767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1722061	chr7:109796782-109796783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527753911	chr7:109796807-109796808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189378946	chr7:109796813-109796814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386716793	chr7:109796851-109796852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528188012	chr7:109796852-109796853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547678492	chr7:109796872-109796873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146321911	chr7:109796876-109796877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12536911	chr7:109796883-109796884	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109789600-109797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:109796600-109798600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:109796800-109797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:109796800-109798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:109797600-109797800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:109797600-109798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:109797600-109798200	Enhancers	NHEK	skin
8	chr7:109797600-109798600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:109797600-109798600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:109797600-109799000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:109797800-109799000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:109798000-109798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:109798000-109798600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:109798400-109799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:109798600-109798800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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