Variant report

Variant	nsv470624
Chromosome Location	chr14:26423479-26478611
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	chr14:26302394..26303511-chr14:26477174..26478186,4	MCF-7	breast:
2	chr14:26419057..26420754-chr14:26422206..26423868,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-80A15.1.1-12	chr14:26453403-26453786	l_951_chr14:26412156-26453786_testes

Extended variants
information (count: 2015 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10147622	chr14:26423479-26423480	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563806060	chr14:26423519-26423520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71699621	chr14:26423525-26423526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs33959136	chr14:26423547-26423548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367795005	chr14:26423613-26423614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549075427	chr14:26423643-26423644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566187522	chr14:26423652-26423653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576856832	chr14:26423678-26423679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528549521	chr14:26423742-26423743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551904855	chr14:26423754-26423755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112707392	chr14:26423779-26423780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564996266	chr14:26423781-26423782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116242574	chr14:26423900-26423901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567411514	chr14:26423920-26423921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536251004	chr14:26423927-26423928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558917362	chr14:26423949-26423950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374793195	chr14:26423999-26424000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572501049	chr14:26424063-26424064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544745635	chr14:26424127-26424128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558213724	chr14:26424156-26424157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577844136	chr14:26424199-26424200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543626838	chr14:26424202-26424203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564026407	chr14:26424228-26424229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184946903	chr14:26424262-26424263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543011913	chr14:26424328-26424329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189461017	chr14:26424376-26424377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528487537	chr14:26424436-26424437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532209663	chr14:26424445-26424446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551939995	chr14:26424446-26424447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76274491	chr14:26424447-26424448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577382724	chr14:26424448-26424449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180978787	chr14:26424500-26424501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36060335	chr14:26424501-26424502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114784498	chr14:26424502-26424503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189632153	chr14:26424540-26424541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141322821	chr14:26424543-26424544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57658604	chr14:26424546-26424547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181928853	chr14:26424574-26424575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75545206	chr14:26424615-26424616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187009888	chr14:26424616-26424617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566165413	chr14:26424702-26424703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370486161	chr14:26424711-26424712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559422832	chr14:26424788-26424789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538224493	chr14:26424794-26424795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191937860	chr14:26424805-26424806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574960799	chr14:26424823-26424824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537663193	chr14:26424879-26424880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557227122	chr14:26424924-26424925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574175688	chr14:26424933-26424934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559278821	chr14:26424934-26424935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:26422200-26423600	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:26422400-26423600	Enhancers	Colon Smooth Muscle	Colon
3	chr14:26422400-26426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:26422800-26425800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:26423400-26424000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:26423400-26424200	Enhancers	HUVEC	blood vessel
7	chr14:26425800-26426200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:26426200-26426600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:26426200-26428400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:26426600-26427400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:26427400-26429200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:26428400-26430600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:26429200-26433800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:26433800-26434400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:26434400-26436200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:26436200-26436400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:26436400-26436600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:26440400-26445800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:26444600-26445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:26445600-26447200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:26445800-26447400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:26446000-26446400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:26446000-26446400	Enhancers	Brain Germinal Matrix	brain
24	chr14:26447400-26448000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:26448000-26449200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:26449200-26454200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:26453400-26455000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:26454200-26455200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:26454800-26456200	Enhancers	Ovary	ovary
30	chr14:26455000-26455400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:26455200-26457800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:26455400-26455800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:26456400-26456800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:26456400-26457000	Enhancers	Fetal Heart	heart
35	chr14:26457800-26460800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:26458000-26458200	Enhancers	Ovary	ovary
37	chr14:26460800-26461400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:26461200-26461600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:26461400-26461600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:26461600-26466200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:26461600-26469000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:26469000-26469200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:26469200-26469400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:26469400-26478800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links