Variant report

Variant	esv1794470
Chromosome Location	chr7:14246280-14253763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 437 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17707695	chr7:14246280-14246281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10950512	chr7:14246320-14246321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547008649	chr7:14246325-14246326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114717468	chr7:14246333-14246334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142282999	chr7:14246335-14246336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568963882	chr7:14246385-14246386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144607622	chr7:14246454-14246455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554313074	chr7:14246465-14246466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539953171	chr7:14246480-14246481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28605107	chr7:14246502-14246503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113785348	chr7:14246573-14246574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191021830	chr7:14246586-14246587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145733388	chr7:14246596-14246597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576766705	chr7:14246610-14246611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545428655	chr7:14246620-14246621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148949206	chr7:14246682-14246683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576174733	chr7:14246696-14246697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6461071	chr7:14246698-14246699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547689558	chr7:14246727-14246728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578104100	chr7:14246733-14246734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115073225	chr7:14246752-14246753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79924553	chr7:14246759-14246760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560668789	chr7:14246789-14246790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535839437	chr7:14246791-14246792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182912257	chr7:14246812-14246813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187529293	chr7:14246813-14246814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568931219	chr7:14246815-14246816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555827180	chr7:14246816-14246817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143726723	chr7:14246844-14246845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193286774	chr7:14246857-14246858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567904801	chr7:14246858-14246859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375074656	chr7:14246861-14246862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533790980	chr7:14246882-14246883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553932678	chr7:14246892-14246893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62445568	chr7:14246893-14246894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539734777	chr7:14246912-14246913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117522147	chr7:14246947-14246948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184666306	chr7:14246950-14246951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541933823	chr7:14247020-14247021	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541298474	chr7:14247028-14247029	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555542589	chr7:14247045-14247046	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386710578	chr7:14247064-14247065	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6461072	chr7:14247066-14247067	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192098985	chr7:14247078-14247079	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370307240	chr7:14247091-14247092	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6461073	chr7:14247103-14247104	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184191275	chr7:14247116-14247117	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546504063	chr7:14247124-14247125	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189895107	chr7:14247164-14247165	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6461074	chr7:14247170-14247171	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14239200-14249000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14244800-14248200	Enhancers	Fetal Intestine Large	intestine
3	chr7:14245200-14248000	Enhancers	Fetal Intestine Small	intestine
4	chr7:14246600-14247400	Enhancers	Fetal Heart	heart
5	chr7:14246800-14247000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:14246800-14247000	Enhancers	Esophagus	oesophagus
7	chr7:14246800-14247200	Enhancers	Pancreas	Pancrea
8	chr7:14246800-14247200	Enhancers	Right Atrium	heart
9	chr7:14247000-14247200	ZNF genes & repeats	Esophagus	oesophagus
10	chr7:14247000-14247200	Enhancers	Left Ventricle	heart
11	chr7:14247200-14249600	Weak transcription	Left Ventricle	heart
12	chr7:14247200-14249800	Weak transcription	Esophagus	oesophagus
13	chr7:14247400-14250200	Weak transcription	Fetal Heart	heart
14	chr7:14249000-14250600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:14249000-14250800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:14249400-14250600	Enhancers	Brain Germinal Matrix	brain
17	chr7:14249600-14250000	Enhancers	Left Ventricle	heart
18	chr7:14249800-14250000	Enhancers	Esophagus	oesophagus
19	chr7:14249800-14250200	Enhancers	Brain Anterior Caudate	brain
20	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
21	chr7:14250200-14250600	Enhancers	Fetal Heart	heart
22	chr7:14250800-14254600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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