Variant report

Variant	nsv1052389
Chromosome Location	chr14:66255781-66321562
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:47)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66294398..66297294-chr14:66299111..66300788,2	MCF-7	breast:
2	chr14:66288028..66293005-chr14:66294428..66297803,4	MCF-7	breast:
3	chr14:66281943..66282566-chr14:66537249..66538129,3	MCF-7	breast:
4	chr14:66306305..66308376-chr14:66309339..66311609,2	MCF-7	breast:
5	chr14:66268768..66270797-chr14:66283972..66286335,2	MCF-7	breast:
6	chr14:66314305..66316649-chr14:66316764..66318880,2	MCF-7	breast:
7	chr14:66263365..66266038-chr14:66272538..66274429,2	MCF-7	breast:
8	chr14:65881391..65882373-chr14:66299222..66299740,2	MCF-7	breast:
9	chr14:66221986..66224383-chr14:66256586..66258647,2	MCF-7	breast:
10	chr14:66263365..66266038-chr14:66272538..66274429,2	MCF-7	breast:
11	chr14:66294398..66297294-chr14:66299111..66300788,2	MCF-7	breast:
12	chr14:66295863..66298342-chr14:66306411..66309225,2	MCF-7	breast:
13	chr14:66268768..66270797-chr14:66283972..66286335,2	MCF-7	breast:
14	chr14:66291136..66291696-chr14:66425702..66426318,2	MCF-7	breast:
15	chr14:66277703..66280018-chr14:66286044..66288348,2	K562	blood:
16	chr13:31681394..31681914-chr14:66291283..66291835,2	MCF-7	breast:
17	chr14:66288028..66293005-chr14:66294428..66297803,4	MCF-7	breast:
18	chr14:65880088..65881939-chr14:66282983..66284508,2	MCF-7	breast:
19	chr14:65878390..65881000-chr14:66282213..66285631,3	MCF-7	breast:
20	chr14:66270049..66272588-chr14:66272600..66274303,2	MCF-7	breast:
21	chr14:65877493..65879893-chr14:66259513..66261603,2	MCF-7	breast:
22	chr14:66249714..66253526-chr14:66254626..66258176,3	MCF-7	breast:
23	chr14:66284784..66288296-chr14:66289898..66292901,3	MCF-7	breast:
24	chr14:66277703..66280018-chr14:66286044..66288348,2	K562	blood:
25	chr14:66283306..66285455-chr14:66289070..66291693,2	MCF-7	breast:
26	chr14:66291972..66293582-chr14:66297178..66299094,2	K562	blood:
27	chr14:66291364..66292041-chr14:66427887..66428391,2	MCF-7	breast:
28	chr14:66265298..66267312-chr14:66388199..66390774,2	K562	blood:
29	chr14:66277742..66279881-chr14:66280503..66283157,2	MCF-7	breast:
30	chr14:66262965..66265183-chr14:66266765..66269639,2	MCF-7	breast:
31	chr14:66277742..66279881-chr14:66280503..66283157,2	MCF-7	breast:
32	chr14:66314305..66316649-chr14:66316764..66318880,2	MCF-7	breast:
33	chr14:65879350..65881605-chr14:66312642..66315220,2	MCF-7	breast:
34	chr14:65882552..65883151-chr14:66291137..66291691,2	MCF-7	breast:
35	chr14:66291972..66293582-chr14:66297178..66299094,2	K562	blood:
36	chr14:65878638..65881456-chr14:66303182..66305211,2	MCF-7	breast:
37	chr14:65878379..65880448-chr14:66287247..66290167,2	MCF-7	breast:
38	chr14:66284784..66288296-chr14:66289898..66292901,3	MCF-7	breast:
39	chr14:66262965..66265183-chr14:66266765..66269639,2	MCF-7	breast:
40	chr14:66281810..66282561-chr14:66425521..66426262,2	MCF-7	breast:
41	chr14:65878155..65880381-chr14:66292349..66294574,2	MCF-7	breast:
42	chr14:66283306..66285455-chr14:66289070..66291693,2	MCF-7	breast:
43	chr14:65878097..65879607-chr14:66264869..66267520,2	MCF-7	breast:
44	chr14:66306305..66308376-chr14:66309339..66311609,2	MCF-7	breast:
45	chr14:65881498..65882398-chr14:66291188..66291694,2	K562	blood:
46	chr14:66295863..66298342-chr14:66306411..66309225,2	MCF-7	breast:
47	chr14:66270049..66272588-chr14:66272600..66274303,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-3	chr14:66261740-66262033	NONHSAT037398
2	lnc-FUT8-3	chr14:66287495-66287592	NONHSAT037398
3	lnc-FUT8-3	chr14:66313476-66313886	NONHSAT037398

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 2570 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7151846	chr14:66255781-66255782	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372944689	chr14:66255842-66255843	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs567023186	chr14:66255849-66255850	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs529582087	chr14:66255874-66255875	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs145505732	chr14:66255880-66255881	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs548712708	chr14:66255903-66255904	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs79059579	chr14:66255993-66255994	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs376106994	chr14:66256005-66256006	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs78117323	chr14:66256032-66256033	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs73270664	chr14:66256045-66256046	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183217292	chr14:66256128-66256129	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs534263229	chr14:66256146-66256147	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs150643542	chr14:66256148-66256149	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs370446412	chr14:66256160-66256161	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs78663947	chr14:66256164-66256165	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs187496323	chr14:66256168-66256169	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs552549681	chr14:66256169-66256170	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs373399539	chr14:66256183-66256184	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs61988973	chr14:66256223-66256224	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575681467	chr14:66256276-66256277	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs149797867	chr14:66256310-66256311	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs565028048	chr14:66256316-66256317	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs371419235	chr14:66256332-66256333	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs145726298	chr14:66256333-66256334	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs56720460	chr14:66256336-66256337	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12436975	chr14:66256361-66256362	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12433830	chr14:66256409-66256410	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191905202	chr14:66256427-66256428	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs569549043	chr14:66256430-66256431	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs531772811	chr14:66256431-66256432	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs551814415	chr14:66256436-66256437	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs151043791	chr14:66256461-66256462	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs571588062	chr14:66256463-66256464	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs112090982	chr14:66256468-66256469	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs56922569	chr14:66256472-66256473	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs59636756	chr14:66256489-66256490	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567386889	chr14:66256490-66256491	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs374413911	chr14:66256514-66256515	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs79042630	chr14:66256540-66256541	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs556070497	chr14:66256569-66256570	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs575918819	chr14:66256584-66256585	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs377760177	chr14:66256586-66256587	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs554656876	chr14:66256652-66256653	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs370289660	chr14:66256660-66256661	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs12433947	chr14:66256663-66256664	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12433950	chr14:66256708-66256709	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs60789318	chr14:66256716-66256717	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370417703	chr14:66256760-66256761	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs534358905	chr14:66256819-66256820	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572903112	chr14:66256821-66256822	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66255600-66255800	Enhancers	Stomach Mucosa	stomach
2	chr14:66255600-66255800	Bivalent Enhancer	HepG2	liver
3	chr14:66255800-66256800	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr14:66256000-66256400	Enhancers	Spleen	Spleen
5	chr14:66256200-66256400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:66256200-66256400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr14:66256200-66256600	Enhancers	Fetal Brain Female	brain
8	chr14:66256200-66257200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:66256200-66257200	Enhancers	Fetal Brain Male	brain
10	chr14:66256200-66257400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:66256400-66256600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:66256400-66256600	Enhancers	Placenta	Placenta
13	chr14:66256400-66256800	Enhancers	Fetal Lung	lung
14	chr14:66256400-66257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:66256400-66257200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:66256400-66258200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:66256400-66258200	Weak transcription	Spleen	Spleen
18	chr14:66256400-66259200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:66256600-66257600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:66256600-66257600	Enhancers	Brain Germinal Matrix	brain
21	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:66256800-66257200	Bivalent Enhancer	HepG2	liver
23	chr14:66256800-66258200	Weak transcription	Fetal Lung	lung
24	chr14:66257000-66257200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:66257000-66257400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:66257000-66257400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:66257000-66257600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:66257200-66257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:66257200-66258600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr14:66257400-66258200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:66257400-66258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:66257600-66258000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:66257600-66258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:66257600-66258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:66257600-66259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:66257800-66258200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:66258000-66258400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:66258000-66258400	Enhancers	Primary T cells from cord blood	blood
40	chr14:66258000-66258400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:66258000-66258400	Enhancers	Fetal Thymus	thymus
42	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:66258200-66258400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:66258200-66258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:66258200-66258400	Flanking Active TSS	Fetal Lung	lung
46	chr14:66258200-66258600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:66258200-66258600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:66258200-66258600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:66258200-66258600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:66258200-66258600	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links