Variant report

Variant	nsv974448
Chromosome Location	chr14:40231883-40258967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-6	chr14:40249746-40249897	NONHSAT036552
2	lnc-CTAGE5-6	chr14:40243550-40243655	NONHSAT036552

Extended variants
information (count: 796 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191470738	chr14:40231905-40231906	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs537328500	chr14:40231986-40231987	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs140146803	chr14:40232004-40232005	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs576897255	chr14:40232011-40232012	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs184064584	chr14:40232075-40232076	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs375920681	chr14:40232084-40232085	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs553105812	chr14:40232184-40232185	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs572947731	chr14:40232209-40232210	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559209518	chr14:40232220-40232221	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372109035	chr14:40232224-40232225	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34813075	chr14:40232227-40232228	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145663012	chr14:40232260-40232261	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561517464	chr14:40232267-40232268	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556027616	chr14:40232273-40232274	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544094302	chr14:40232277-40232278	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563383733	chr14:40232287-40232288	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187018301	chr14:40232307-40232308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529944699	chr14:40232391-40232392	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541536392	chr14:40232427-40232428	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs147666189	chr14:40232428-40232429	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35167430	chr14:40232429-40232430	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563433232	chr14:40232446-40232447	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528553409	chr14:40232478-40232479	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369663948	chr14:40232510-40232511	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140956906	chr14:40232514-40232515	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574209809	chr14:40232555-40232556	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192258304	chr14:40232556-40232557	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557300210	chr14:40232577-40232578	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150214454	chr14:40232631-40232632	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs182489790	chr14:40232679-40232680	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs373234545	chr14:40232684-40232685	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs552970759	chr14:40232724-40232725	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs115463502	chr14:40232725-40232726	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs541888274	chr14:40232788-40232789	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs186718225	chr14:40232801-40232802	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs574968588	chr14:40232805-40232806	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs377136681	chr14:40232854-40232855	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs543612936	chr14:40232866-40232867	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs145747807	chr14:40232878-40232879	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs556309662	chr14:40232885-40232886	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs72681317	chr14:40232886-40232887	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs190392222	chr14:40232887-40232888	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs370583871	chr14:40232915-40232916	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs528621993	chr14:40232922-40232923	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs182562922	chr14:40232925-40232926	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs36013290	chr14:40232953-40232954	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs568418606	chr14:40232981-40232982	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs545130055	chr14:40233006-40233007	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs530735581	chr14:40233008-40233009	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550766324	chr14:40233012-40233013	Weak transcription Bivalent Enhancer	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	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40231200-40232000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:40231800-40232200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:40231800-40232200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:40231800-40232200	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr14:40231800-40232400	Flanking Active TSS	GM12878-XiMat	blood
6	chr14:40232000-40232200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:40232000-40232400	ZNF genes & repeats	Pancreas	Pancrea
8	chr14:40232000-40232800	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:40232000-40232800	Enhancers	Placenta	Placenta
10	chr14:40232200-40232600	Bivalent/Poised TSS	HepG2	liver
11	chr14:40232200-40232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:40232400-40233000	Enhancers	GM12878-XiMat	blood
13	chr14:40232600-40233000	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr14:40232800-40233000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:40233000-40233200	Bivalent Enhancer	HepG2	liver
16	chr14:40233000-40235400	Weak transcription	GM12878-XiMat	blood
17	chr14:40233000-40241600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:40235400-40236000	Enhancers	GM12878-XiMat	blood
19	chr14:40237400-40238000	Enhancers	Brain Germinal Matrix	brain
20	chr14:40237400-40238600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:40237600-40238200	Enhancers	Fetal Brain Male	brain
22	chr14:40241400-40241600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:40241400-40243200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:40241600-40241800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:40241800-40242800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:40242000-40242800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr14:40242200-40243000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:40242200-40243400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:40242600-40243000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:40242600-40243000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:40242800-40243200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:40245000-40247400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:40246200-40250000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:40249800-40250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:40250000-40250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:40250000-40250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:40250000-40251000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:40250000-40251000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:40250000-40251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:40250200-40250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:40250200-40251000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr14:40250200-40251000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:40250400-40250800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:40250400-40251000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:40250400-40251000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:40250400-40251600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:40251600-40252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:40252600-40255400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:40253400-40254200	Enhancers	Brain Germinal Matrix	brain
50	chr14:40253600-40254600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links