Variant report

Variant	nsv974471
Chromosome Location	chr14:31825981-31830623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31698046..31700432-chr14:31824994..31826810,2	K562	blood:
2	chr14:31674894..31678843-chr14:31820939..31826444,5	MCF-7	breast:
3	chr14:31819147..31821275-chr14:31824530..31827299,2	K562	blood:
4	chr14:31828101..31830305-chr14:31836175..31838575,2	K562	blood:
5	chr14:31676589..31678359-chr14:31823453..31827063,4	MCF-7	breast:
6	chr14:31826783..31829136-chr14:31888128..31890076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250365	chromatin interactions
ENSG00000092148	chromatin interactions
ENSG00000129493	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs533149901	chr14:31825992-31825993	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551485757	chr14:31826116-31826117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185344620	chr14:31826126-31826127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527744985	chr14:31826171-31826172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549574791	chr14:31826282-31826283	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188213243	chr14:31826343-31826344	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191886752	chr14:31826468-31826469	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183695170	chr14:31826471-31826472	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571322331	chr14:31826516-31826517	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538616508	chr14:31826571-31826572	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188355354	chr14:31826608-31826609	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532153745	chr14:31826616-31826617	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181804788	chr14:31826639-31826640	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185709962	chr14:31826672-31826673	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535940463	chr14:31826697-31826698	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199910283	chr14:31826706-31826707	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375571455	chr14:31826707-31826708	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554756944	chr14:31826728-31826729	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576146616	chr14:31826770-31826771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527250143	chr14:31826790-31826791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs369843690	chr14:31826900-31826901	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565569074	chr14:31826916-31826917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs373215897	chr14:31826928-31826929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs114364239	chr14:31826956-31826957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs577649373	chr14:31826970-31826971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs545016705	chr14:31826985-31826986	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560086967	chr14:31827019-31827020	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377309918	chr14:31827081-31827082	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549009154	chr14:31827102-31827103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536524673	chr14:31827116-31827117	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs4981093	chr14:31827140-31827141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531809078	chr14:31827144-31827145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190583786	chr14:31827210-31827211	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569827299	chr14:31827253-31827254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571957287	chr14:31827307-31827308	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7153493	chr14:31827311-31827312	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181811263	chr14:31827343-31827344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558520578	chr14:31827344-31827345	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs80009860	chr14:31827348-31827349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150770085	chr14:31827352-31827353	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578044193	chr14:31827372-31827373	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186917623	chr14:31827416-31827417	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554363252	chr14:31827424-31827425	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12889512	chr14:31827507-31827508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190026476	chr14:31827515-31827516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536826503	chr14:31827580-31827581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558295682	chr14:31827606-31827607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs181269915	chr14:31827618-31827619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79559396	chr14:31827642-31827643	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553757549	chr14:31827662-31827663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
4	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
5	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
7	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
10	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
12	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
17	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:31803800-31843600	Weak transcription	A549	lung
20	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:31806400-31829200	Strong transcription	Placenta	Placenta
24	chr14:31806600-31826600	Weak transcription	NHEK	skin
25	chr14:31806600-31826800	Weak transcription	Hela-S3	cervix
26	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:31808600-31827000	Weak transcription	Lung	lung
28	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31810200-31827800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
32	chr14:31812800-31827000	Weak transcription	Spleen	Spleen
33	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
34	chr14:31813200-31829800	Weak transcription	HMEC	breast
35	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:31813400-31827200	Weak transcription	HSMMtube	muscle
37	chr14:31814400-31827000	Weak transcription	Ovary	ovary
38	chr14:31814400-31827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:31815200-31839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:31816200-31837200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:31816400-31827000	Weak transcription	NHLF	lung
44	chr14:31816800-31826600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:31816800-31827000	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:31817000-31826800	Weak transcription	Fetal Brain Female	brain
47	chr14:31817000-31827200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:31817000-31827400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:31817000-31837400	Weak transcription	Primary T cells from cord blood	blood
50	chr14:31817200-31827400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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