Variant report

Variant	nsv608145
Chromosome Location	chr7:110186587-110192161
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	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs925156	chr7:110186587-110186588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369584560	chr7:110186607-110186608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371921002	chr7:110186650-110186651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143894944	chr7:110186656-110186657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535451081	chr7:110186706-110186707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139806329	chr7:110186737-110186738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190325531	chr7:110186739-110186740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78445235	chr7:110186740-110186741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113881861	chr7:110186750-110186751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181579470	chr7:110186768-110186769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17394956	chr7:110186769-110186770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576383885	chr7:110186789-110186790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559805207	chr7:110186815-110186816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528439589	chr7:110186818-110186819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528141077	chr7:110186857-110186858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543394735	chr7:110186885-110186886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562001440	chr7:110186911-110186912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35425718	chr7:110186916-110186917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561966457	chr7:110186997-110186998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186138700	chr7:110187006-110187007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192405889	chr7:110187054-110187055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570580039	chr7:110187067-110187068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12705711	chr7:110187191-110187192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373806625	chr7:110187197-110187198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532973240	chr7:110187380-110187381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377322101	chr7:110187403-110187404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369057932	chr7:110187406-110187407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143315888	chr7:110187431-110187432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373813234	chr7:110187488-110187489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566586281	chr7:110187517-110187518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557722557	chr7:110187595-110187596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201454098	chr7:110187603-110187604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146213335	chr7:110187613-110187614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35433798	chr7:110187619-110187620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35646373	chr7:110187652-110187653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74861435	chr7:110187653-110187654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568801991	chr7:110187675-110187676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73205274	chr7:110187683-110187684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557689629	chr7:110187694-110187695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577472755	chr7:110187734-110187735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546433877	chr7:110187759-110187760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10245481	chr7:110187831-110187832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573264650	chr7:110187855-110187856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199746464	chr7:110187877-110187878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541991383	chr7:110187880-110187881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376924305	chr7:110187894-110187895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541841958	chr7:110187895-110187896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550963860	chr7:110187928-110187929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574145360	chr7:110187967-110187968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112178483	chr7:110187970-110187971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:110184400-110188600	Weak transcription	HMEC	breast
5	chr7:110184600-110188000	Weak transcription	NHEK	skin
6	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:110188000-110189200	Enhancers	NHEK	skin
10	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:110188600-110189000	Enhancers	HMEC	breast
15	chr7:110188800-110197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:110189000-110194600	Weak transcription	HMEC	breast
17	chr7:110190800-110191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:110190800-110191600	ZNF genes & repeats	Dnd41	blood
19	chr7:110191000-110191800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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