Variant report

Variant	esv3398763
Chromosome Location	chr7:14084677-14088275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14083947..14086939-chr7:14087713..14089470,2	K562	blood:
2	chr7:14083947..14086939-chr7:14087713..14089470,2	K562	blood:
3	chr7:14081220..14084110-chr7:14085768..14087575,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 78 )

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	rs548346028	chr7:14084811-14084812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577541286	chr7:14084825-14084826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190077446	chr7:14084827-14084828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60347772	chr7:14084852-14084853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548061048	chr7:14084906-14084907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2079353	chr7:14084909-14084910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183116511	chr7:14084923-14084924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115339678	chr7:14084930-14084931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60290474	chr7:14084933-14084934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569764916	chr7:14084947-14084948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535978619	chr7:14084984-14084985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114607059	chr7:14084985-14084986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187613311	chr7:14084987-14084988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35291842	chr7:14085006-14085007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192629449	chr7:14085108-14085109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10234916	chr7:14085130-14085131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185680146	chr7:14085144-14085145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187797030	chr7:14085167-14085168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573329687	chr7:14085168-14085169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73263825	chr7:14085208-14085209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566197140	chr7:14085226-14085227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559063871	chr7:14085229-14085230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535112425	chr7:14085274-14085275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544998901	chr7:14085281-14085282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541270320	chr7:14085288-14085289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564763320	chr7:14085324-14085325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532042706	chr7:14085364-14085365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533475022	chr7:14085385-14085386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550173403	chr7:14085422-14085423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570046185	chr7:14085430-14085431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529344296	chr7:14085434-14085435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549492639	chr7:14085454-14085455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566042682	chr7:14085468-14085469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577080908	chr7:14085476-14085477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376110083	chr7:14085511-14085512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375269439	chr7:14085522-14085523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571490384	chr7:14085543-14085544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73263827	chr7:14085569-14085570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556870523	chr7:14085605-14085606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573293011	chr7:14085633-14085634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542262803	chr7:14085659-14085660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184489606	chr7:14085663-14085664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546102783	chr7:14085671-14085672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188907517	chr7:14085679-14085680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10254238	chr7:14085746-14085747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144234339	chr7:14085760-14085761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147358835	chr7:14085775-14085776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533605488	chr7:14085783-14085784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544114801	chr7:14085807-14085808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139526165	chr7:14085817-14085818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14084800-14085800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:14085000-14085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:14085000-14085800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:14085000-14085800	Enhancers	NHEK	skin
5	chr7:14085800-14087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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