Variant report

Variant	nsv983844
Chromosome Location	chr14:81467606-81470682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr14:81469049-81469215	HepG2	liver:	n/a	n/a
2	FOXA2	chr14:81468892-81469349	A549	lung:	n/a	n/a
3	PAX5	chr14:81469066-81469197	GM12878	blood:	n/a	n/a
4	PBX3	chr14:81469013-81469183	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:81469988-81470015	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:81469130-81469167	Hela-S3	cervix:	n/a	n/a
7	REST	chr14:81469086-81469179	PANC-1	pancreas:	n/a	n/a
8	SIN3AK20	chr14:81469087-81469177	HepG2	liver:	n/a	n/a
9	SPI1	chr14:81469079-81469184	GM12878	blood:	n/a	n/a
10	USF1	chr14:81469083-81469185	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81467255..81470490-chr14:81470537..81472087,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP128-2	chr14:81469669-81469989	NONHSAT038047

No data

Variant related genes	Relation type
ENSG00000271656	TF binding region
RPL17P3	TF binding region
ENSG00000271705	chromatin interactions
ENSG00000271656	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2268465	chr14:81467614-81467615	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560629821	chr14:81467640-81467641	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528031231	chr14:81467646-81467647	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542951246	chr14:81467683-81467684	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561749027	chr14:81467707-81467708	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534396241	chr14:81467714-81467715	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528864217	chr14:81467715-81467716	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550125066	chr14:81467823-81467824	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79480317	chr14:81467840-81467841	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111544606	chr14:81467865-81467866	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201119732	chr14:81467866-81467867	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7140756	chr14:81467883-81467884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532816054	chr14:81467946-81467947	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368047815	chr14:81467950-81467951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551169974	chr14:81467968-81467969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566539915	chr14:81468019-81468020	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113058279	chr14:81468032-81468033	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555357978	chr14:81468075-81468076	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567518097	chr14:81468125-81468126	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112929316	chr14:81468142-81468143	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538265078	chr14:81468145-81468146	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556551253	chr14:81468155-81468156	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140239118	chr14:81468178-81468179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539127516	chr14:81468179-81468180	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8007809	chr14:81468235-81468236	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35472552	chr14:81468250-81468251	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543336646	chr14:81468259-81468260	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17111365	chr14:81468264-81468265	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547698988	chr14:81468287-81468288	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576645222	chr14:81468319-81468320	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543805833	chr14:81468374-81468375	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562102438	chr14:81468380-81468381	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58417382	chr14:81468446-81468447	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35336887	chr14:81468463-81468464	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs58266067	chr14:81468476-81468477	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527510428	chr14:81468484-81468485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560749775	chr14:81468503-81468504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549133572	chr14:81468530-81468531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150312972	chr14:81468545-81468546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375197796	chr14:81468553-81468554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58241131	chr14:81468579-81468580	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550242497	chr14:81468619-81468620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60462373	chr14:81468655-81468656	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553908337	chr14:81468664-81468665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373655037	chr14:81468728-81468729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532191625	chr14:81468737-81468738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375113279	chr14:81468744-81468745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181594597	chr14:81468750-81468751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572465821	chr14:81468756-81468757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555815167	chr14:81468896-81468897	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81463200-81469000	Weak transcription	K562	blood
3	chr14:81466800-81468000	Strong transcription	Thymus	Thymus
4	chr14:81467000-81470400	Strong transcription	Dnd41	blood
5	chr14:81467200-81468400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:81468000-81468400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
8	chr14:81468200-81468600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:81468400-81469600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:81468400-81472600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:81469000-81469200	Bivalent Enhancer	Primary T cells from cord blood	blood
12	chr14:81469000-81469200	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:81469000-81469200	Enhancers	HSMM	muscle
14	chr14:81469000-81469200	Flanking Active TSS	K562	blood
15	chr14:81469200-81469400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr14:81469200-81469400	Enhancers	K562	blood
17	chr14:81469400-81470800	Weak transcription	K562	blood
18	chr14:81469600-81469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81470400-81477200	Weak transcription	Dnd41	blood

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