Variant report

Variant	nsv1041492
Chromosome Location	chr14:72634606-72768970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72720189..72722386-chr14:72732098..72734975,2	K562	blood:
2	chr14:72749616..72751897-chr14:72756117..72758691,2	MCF-7	breast:
3	chr14:72570534..72571227-chr14:72759065..72759718,2	MCF-7	breast:
4	chr14:72711994..72714695-chr14:72721324..72722948,2	MCF-7	breast:
5	chr14:72720189..72722386-chr14:72732098..72734975,2	K562	blood:
6	chr14:72398600..72399168-chr14:72758847..72759362,2	MCF-7	breast:
7	chr14:72758845..72761499-chr14:72887079..72888301,15	MCF-7	breast:
8	chr14:72638416..72640679-chr14:72649265..72651045,2	MCF-7	breast:
9	chr14:72638096..72639820-chr14:72641288..72642880,2	MCF-7	breast:
10	chr14:72398725..72399242-chr14:72758933..72759467,2	MCF-7	breast:
11	chr14:72686361..72688568-chr14:72692682..72695417,2	MCF-7	breast:
12	chr14:72711994..72714695-chr14:72721324..72722948,2	MCF-7	breast:
13	chr14:72638096..72639820-chr14:72641288..72642880,2	MCF-7	breast:
14	chr14:72760434..72761186-chr14:72883286..72884169,5	MCF-7	breast:
15	chr14:72398262..72400525-chr14:72758927..72761647,3	MCF-7	breast:
16	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:
17	chr14:72489255..72491408-chr14:72757396..72759777,2	MCF-7	breast:
18	chr14:72694736..72697580-chr14:72698002..72700652,3	MCF-7	breast:
19	chr14:72757555..72758135-chr14:72887301..72888081,2	MCF-7	breast:
20	chr14:72686361..72688568-chr14:72692682..72695417,2	MCF-7	breast:
21	chr14:72570215..72571451-chr14:72758982..72759729,6	MCF-7	breast:
22	chr14:72621837..72624302-chr14:72634079..72635792,2	MCF-7	breast:
23	chr14:72490629..72491408-chr14:72758856..72759783,5	MCF-7	breast:
24	chr14:72646892..72649524-chr14:72654498..72657477,2	MCF-7	breast:
25	chr14:72646892..72649524-chr14:72654498..72657477,2	MCF-7	breast:
26	chr14:72694736..72697580-chr14:72698002..72700652,3	MCF-7	breast:
27	chr14:72638416..72640679-chr14:72649265..72651045,2	MCF-7	breast:
28	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:
29	chr14:72749616..72751897-chr14:72756117..72758691,2	MCF-7	breast:
30	chr14:72576115..72579038-chr14:72700345..72702644,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182732	chromatin interactions

Extended variants
information (count: 5930 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5930 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190473016	chr14:72634625-72634626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145055984	chr14:72634670-72634671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141527338	chr14:72634693-72634694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547505011	chr14:72634707-72634708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541615939	chr14:72634720-72634721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560308376	chr14:72634750-72634751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566158230	chr14:72634805-72634806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116054450	chr14:72634810-72634811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533314332	chr14:72634850-72634851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150876762	chr14:72634909-72634910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149669	chr14:72634917-72634918	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531322890	chr14:72634925-72634926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183416351	chr14:72634928-72634929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561582142	chr14:72634936-72634937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528993221	chr14:72634945-72634946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72719861	chr14:72634959-72634960	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150057533	chr14:72634968-72634969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8009180	chr14:72634969-72634970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs146142729	chr14:72634978-72634979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79145067	chr14:72634997-72634998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149668	chr14:72634998-72634999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556527334	chr14:72635002-72635003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568424565	chr14:72635026-72635027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77632712	chr14:72635027-72635028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535415226	chr14:72635035-72635036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572251945	chr14:72635056-72635057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139114547	chr14:72635091-72635092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558080195	chr14:72635100-72635101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143953969	chr14:72635122-72635123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543010358	chr14:72635155-72635156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12885156	chr14:72635166-72635167	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187682133	chr14:72635180-72635181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541099053	chr14:72635186-72635187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113010344	chr14:72635189-72635190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58868301	chr14:72635245-72635246	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575009450	chr14:72635252-72635253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193047036	chr14:72635281-72635282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184541957	chr14:72635290-72635291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549876725	chr14:72635303-72635304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568418844	chr14:72635307-72635308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75788095	chr14:72635313-72635314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138696553	chr14:72635332-72635333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554297363	chr14:72635350-72635351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543634024	chr14:72635361-72635362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566224086	chr14:72635368-72635369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539594057	chr14:72635436-72635437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149667	chr14:72635437-72635438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576222687	chr14:72635459-72635460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187467578	chr14:72635460-72635461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146455749	chr14:72635491-72635492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72624200-72638600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72626200-72645800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:72634200-72635800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72635800-72639200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72638400-72638800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:72638400-72639000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:72638600-72638800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:72638600-72638800	Enhancers	Right Ventricle	heart
9	chr14:72638600-72640200	Enhancers	Left Ventricle	heart
10	chr14:72638800-72639000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:72638800-72639200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:72638800-72646000	Weak transcription	Right Ventricle	heart
13	chr14:72639000-72640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:72639200-72639400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:72639200-72639800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72639400-72642400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:72639800-72640200	Enhancers	Lung	lung
18	chr14:72639800-72640400	Enhancers	Right Atrium	heart
19	chr14:72639800-72643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:72640200-72646000	Weak transcription	Left Ventricle	heart
21	chr14:72642400-72644400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:72643400-72644200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:72643800-72645200	Enhancers	Adipose Nuclei	Adipose
24	chr14:72644200-72652400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:72644400-72645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:72645400-72645600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:72645600-72645800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:72645600-72646200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:72645600-72647000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:72645800-72646000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr14:72645800-72646000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:72645800-72646000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:72645800-72646800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:72646000-72646200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:72646000-72646200	Enhancers	Left Ventricle	heart
36	chr14:72646000-72646200	Enhancers	Right Ventricle	heart
37	chr14:72646000-72646400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:72646000-72647000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:72646000-72653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:72646200-72647000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr14:72646200-72647600	Weak transcription	Left Ventricle	heart
42	chr14:72646200-72652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:72649200-72649800	Enhancers	Fetal Thymus	thymus
44	chr14:72649200-72649800	Enhancers	Pancreas	Pancrea
45	chr14:72649200-72650600	Enhancers	Adipose Nuclei	Adipose
46	chr14:72649400-72649600	Enhancers	Aorta	Aorta
47	chr14:72649400-72650200	Enhancers	Primary T cells from cord blood	blood
48	chr14:72649600-72652800	Weak transcription	Aorta	Aorta
49	chr14:72649800-72650400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:72649800-72650400	Enhancers	Pancreatic Islets	Pancreatic Islet

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