Variant report

Variant	esv3421996
Chromosome Location	chr14:38245401-38249799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181433418	chr14:38245411-38245412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545279073	chr14:38245414-38245415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565082268	chr14:38245416-38245417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527588918	chr14:38245418-38245419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77709520	chr14:38245451-38245452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574924259	chr14:38245472-38245473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116296536	chr14:38245529-38245530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75615794	chr14:38245543-38245544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8012810	chr14:38245559-38245560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61977139	chr14:38245662-38245663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139665205	chr14:38245685-38245686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72676122	chr14:38245708-38245709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540046181	chr14:38245737-38245738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8013150	chr14:38245760-38245761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377531401	chr14:38245923-38245924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545015408	chr14:38245924-38245925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553774598	chr14:38245970-38245971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369288772	chr14:38246023-38246024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189120996	chr14:38246029-38246030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372053752	chr14:38246060-38246061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71433928	chr14:38246101-38246102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181810831	chr14:38246103-38246104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34194790	chr14:38246105-38246106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576184044	chr14:38246107-38246108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397790280	chr14:38246111-38246112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147833320	chr14:38246112-38246113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565100052	chr14:38246158-38246159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141350105	chr14:38246175-38246176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187501357	chr14:38246176-38246177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529253424	chr14:38246189-38246190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560096700	chr14:38246244-38246245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529286884	chr14:38246273-38246274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61660750	chr14:38246308-38246309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs75581275	chr14:38246320-38246321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562595003	chr14:38246361-38246362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192048639	chr14:38246402-38246403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551647896	chr14:38246430-38246431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8016889	chr14:38246440-38246441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533246980	chr14:38246462-38246463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534204082	chr14:38246496-38246497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182763149	chr14:38246507-38246508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80104243	chr14:38246564-38246565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57518151	chr14:38246565-38246566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147890680	chr14:38246566-38246567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567261822	chr14:38246571-38246572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536301195	chr14:38246576-38246577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556200384	chr14:38246598-38246599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544258344	chr14:38246614-38246615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186111194	chr14:38246616-38246617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538744728	chr14:38246617-38246618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38241800-38247200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:38242000-38247600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:38246200-38247400	Enhancers	HepG2	liver
4	chr14:38247200-38247600	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr14:38247200-38247800	ZNF genes & repeats	Gastric	stomach
6	chr14:38247200-38247800	ZNF genes & repeats	Pancreas	Pancrea
7	chr14:38247200-38248000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:38247400-38247600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:38247600-38247800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:38247800-38249400	Weak transcription	Gastric	stomach
11	chr14:38248000-38248400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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