Variant report

Variant	esv1801711
Chromosome Location	chr7:14646986-14658908
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	chr7:14657855..14660530-chr7:14668724..14671460,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17168299	chr7:14646986-14646987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147494477	chr7:14647014-14647015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531522865	chr7:14647025-14647026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200446879	chr7:14647030-14647031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376342132	chr7:14647032-14647033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62445596	chr7:14647046-14647047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533895069	chr7:14647077-14647078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199497669	chr7:14647106-14647107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570469077	chr7:14647128-14647129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201546335	chr7:14647154-14647155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559203094	chr7:14647167-14647168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575891779	chr7:14647170-14647171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200609709	chr7:14647183-14647184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62445597	chr7:14647192-14647193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574566571	chr7:14647232-14647233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540345248	chr7:14647295-14647296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189516021	chr7:14647298-14647299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532368789	chr7:14647329-14647330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180751888	chr7:14647349-14647350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562785224	chr7:14647363-14647364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183837621	chr7:14647423-14647424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527410999	chr7:14647424-14647425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548335323	chr7:14647465-14647466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112885387	chr7:14647466-14647467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60772844	chr7:14647467-14647468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397798092	chr7:14647473-14647474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118024816	chr7:14647476-14647477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527338636	chr7:14647507-14647508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547516298	chr7:14647518-14647519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570611480	chr7:14647526-14647527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539412079	chr7:14647554-14647555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564109358	chr7:14647555-14647556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188453491	chr7:14647590-14647591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17168300	chr7:14647619-14647620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139991464	chr7:14647622-14647623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114205800	chr7:14647633-14647634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532968399	chr7:14647724-14647725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533982919	chr7:14647745-14647746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553839270	chr7:14647756-14647757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149603109	chr7:14647776-14647777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546155444	chr7:14647797-14647798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562761528	chr7:14647811-14647812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56179533	chr7:14647820-14647821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561040535	chr7:14647870-14647871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144350932	chr7:14647871-14647872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148787275	chr7:14647874-14647875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368661001	chr7:14647963-14647964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115288979	chr7:14647975-14647976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116724807	chr7:14648031-14648032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547656392	chr7:14648134-14648135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14641600-14648800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14649400-14650000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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