Variant report

Variant	nsv901802
Chromosome Location	chr14:44383536-44506013
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
2	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
3	chr14:44372607..44374197-chr14:44383168..44385135,2	MCF-7	breast:
4	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
5	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:
6	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-8	chr14:44477505-44479523	ucscGeneNc_uc001wvs_1
2	lnc-FSCB-2	chr14:44464984-44465046	ENSG00000258969

No data

Variant related genes	Relation type
ENSG00000229771	chromatin interactions

Extended variants
information (count: 1219 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1219 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7151210	chr14:44383536-44383537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191125802	chr14:44383538-44383539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539634404	chr14:44383539-44383540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557914116	chr14:44383560-44383561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576298902	chr14:44383570-44383571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373677800	chr14:44383741-44383742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140433275	chr14:44383751-44383752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573882893	chr14:44383760-44383761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114130622	chr14:44383804-44383805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370888794	chr14:44383978-44383979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562078551	chr14:44383994-44383995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575570012	chr14:44384029-44384030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182920266	chr14:44384047-44384048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111497362	chr14:44384078-44384079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572384332	chr14:44384110-44384111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35459389	chr14:44384121-44384122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545872952	chr14:44384192-44384193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564287223	chr14:44384223-44384224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548425054	chr14:44384286-44384287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531780161	chr14:44384307-44384308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550489233	chr14:44384336-44384337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543621447	chr14:44384371-44384372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562200211	chr14:44384376-44384377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529615443	chr14:44384393-44384394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568853740	chr14:44384437-44384438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547045539	chr14:44384438-44384439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575607406	chr14:44384463-44384464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537867962	chr14:44384465-44384466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565646279	chr14:44384513-44384514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533003875	chr14:44384581-44384582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75620795	chr14:44384590-44384591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569774182	chr14:44384594-44384595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537195821	chr14:44384637-44384638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555558499	chr14:44384704-44384705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567413272	chr14:44384780-44384781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188805411	chr14:44384828-44384829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1951547	chr14:44384829-44384830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572401708	chr14:44384843-44384844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191103903	chr14:44384862-44384863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557792203	chr14:44384945-44384946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576134938	chr14:44384963-44384964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75681192	chr14:44384979-44384980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117476308	chr14:44384989-44384990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144161663	chr14:44385011-44385012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541706403	chr14:44385044-44385045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377676255	chr14:44385122-44385123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7492429	chr14:44385176-44385177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559832800	chr14:44385216-44385217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183420287	chr14:44385237-44385238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551399909	chr14:44385297-44385298	Weak transcription	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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44383000-44384000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:44383000-44384000	Enhancers	Fetal Heart	heart
3	chr14:44383000-44385000	Enhancers	HepG2	liver
4	chr14:44383400-44384000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:44383600-44384000	Enhancers	Fetal Intestine Large	intestine
6	chr14:44384000-44386000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:44403800-44404000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:44404000-44406000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:44405400-44408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:44406000-44406400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:44406200-44406400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr14:44406200-44406400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:44406400-44409200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:44408000-44408400	Active TSS	HepG2	liver
15	chr14:44408000-44408800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:44408800-44409000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:44409000-44409200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:44409000-44409400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:44409000-44409400	Enhancers	Spleen	Spleen
20	chr14:44409200-44409400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:44409200-44409400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:44409400-44409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:44411800-44415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:44415000-44418000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:44417800-44418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr14:44417800-44419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:44418000-44419600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:44418000-44419600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:44418000-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:44418200-44419400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:44418400-44419200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:44418400-44419400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:44418400-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:44418600-44419000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:44418600-44419200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:44418600-44419400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:44418600-44419400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:44418600-44419600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:44418800-44419200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr14:44419000-44419200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:44419200-44419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:44419200-44422200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:44422200-44422400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr14:44425600-44427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:44443800-44444200	Enhancers	Fetal Brain Male	brain
46	chr14:44447800-44448000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:44448000-44449800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:44450400-44450800	Enhancers	Fetal Intestine Small	intestine
49	chr14:44450400-44451200	Enhancers	Liver	Liver
50	chr14:44450400-44451200	Enhancers	Fetal Intestine Large	intestine

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