Variant report

Variant	esv3419925
Chromosome Location	chr7:41221652-41224200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368193255	chr7:41221667-41221668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543860197	chr7:41221694-41221695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529481236	chr7:41221710-41221711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200287231	chr7:41221711-41221712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572392868	chr7:41221762-41221763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550920524	chr7:41221809-41221810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185183392	chr7:41221831-41221832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs29526	chr7:41221887-41221888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189699623	chr7:41221891-41221892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140939729	chr7:41221899-41221900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527566152	chr7:41221911-41221912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10269085	chr7:41221956-41221957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567635352	chr7:41221957-41221958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531845613	chr7:41222028-41222029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186087182	chr7:41222049-41222050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35484424	chr7:41222078-41222079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138164627	chr7:41222181-41222182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534711072	chr7:41222206-41222207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67156661	chr7:41222207-41222208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200987291	chr7:41222208-41222209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80116355	chr7:41222248-41222249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74799440	chr7:41222335-41222336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541106120	chr7:41222337-41222338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554329510	chr7:41222339-41222340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566261151	chr7:41222364-41222365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536523149	chr7:41222413-41222414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554948477	chr7:41222427-41222428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113144048	chr7:41222495-41222496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74688570	chr7:41222496-41222497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573263728	chr7:41222509-41222510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566873132	chr7:41222523-41222524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73687947	chr7:41222551-41222552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79646181	chr7:41222567-41222568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553490687	chr7:41222569-41222570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145610653	chr7:41222583-41222584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553220674	chr7:41222620-41222621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs39775	chr7:41222632-41222633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62451671	chr7:41222638-41222639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574232334	chr7:41222657-41222658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148910849	chr7:41222664-41222665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373642865	chr7:41222669-41222670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560259246	chr7:41222691-41222692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112799626	chr7:41222737-41222738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527554341	chr7:41222754-41222755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572391627	chr7:41222759-41222760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542896564	chr7:41222760-41222761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191863331	chr7:41222784-41222785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545922041	chr7:41222797-41222798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372908469	chr7:41222798-41222799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111219205	chr7:41222801-41222802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41189400-41222400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:41215200-41226600	Weak transcription	Aorta	Aorta
3	chr7:41215400-41230400	Weak transcription	Pancreas	Pancrea
4	chr7:41218800-41222200	Weak transcription	Ovary	ovary
5	chr7:41221200-41222200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:41222000-41222600	Enhancers	HUVEC	blood vessel
7	chr7:41222000-41222600	Enhancers	NHEK	skin
8	chr7:41222200-41222400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:41222200-41222400	Enhancers	Ovary	ovary
10	chr7:41222200-41222600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:41222200-41222600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:41222200-41223600	Enhancers	HMEC	breast
13	chr7:41222400-41222600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:41222400-41222800	Weak transcription	Ovary	ovary
15	chr7:41222400-41223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:41222600-41223000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:41222600-41223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:41222600-41223000	Weak transcription	NHEK	skin
19	chr7:41222600-41226000	Weak transcription	HUVEC	blood vessel
20	chr7:41222600-41227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:41222800-41223600	Enhancers	Ovary	ovary
22	chr7:41223000-41223800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:41223000-41223800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:41223000-41223800	Enhancers	NHEK	skin
25	chr7:41223200-41223400	Enhancers	Placenta	Placenta
26	chr7:41223200-41223600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:41223200-41223600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:41223400-41223800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:41223600-41225400	Weak transcription	HMEC	breast
30	chr7:41223800-41224200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:41223800-41226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:41223800-41226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:41223800-41226400	Weak transcription	NHEK	skin
34	chr7:41224200-41224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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