Variant report

Variant	nsv1048274
Chromosome Location	chr14:79323592-79417906
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:79378742..79380336-chr14:79395070..79396642,2	MCF-7	breast:
2	chr14:79400770..79402966-chr14:79404628..79406999,2	K562	blood:
3	chr14:79400140..79400929-chr14:79435226..79435737,2	MCF-7	breast:
4	chr14:79400770..79402966-chr14:79404628..79406999,2	K562	blood:
5	chr14:79378742..79380336-chr14:79395070..79396642,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNW1-9	chr14:79358582-79359777	NONHSAT038018
2	lnc-SNW1-9	chr14:79360305-79360394	NONHSAT038018

No data

Extended variants
information (count: 1740 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1740 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17757723	chr14:79323592-79323593	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs556241145	chr14:79323615-79323616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146405021	chr14:79323625-79323626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538957735	chr14:79323670-79323671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191205591	chr14:79323730-79323731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114704176	chr14:79323799-79323800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139512245	chr14:79323817-79323818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149984588	chr14:79323852-79323853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183117820	chr14:79323889-79323890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72685460	chr14:79323893-79323894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553550129	chr14:79323895-79323896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573163824	chr14:79323897-79323898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187656807	chr14:79323926-79323927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190931951	chr14:79324007-79324008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183503915	chr14:79324016-79324017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78624823	chr14:79324031-79324032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35841889	chr14:79324041-79324042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187834296	chr14:79324075-79324076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373866720	chr14:79324151-79324152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113589632	chr14:79324161-79324162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546450666	chr14:79324180-79324181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566675956	chr14:79324313-79324314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532407760	chr14:79324324-79324325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192319568	chr14:79324331-79324332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542821871	chr14:79324333-79324334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77942682	chr14:79324358-79324359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184527628	chr14:79324362-79324363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148748096	chr14:79324384-79324385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111506127	chr14:79324385-79324386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188469305	chr14:79324423-79324424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142601702	chr14:79324441-79324442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573101434	chr14:79324455-79324456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549135059	chr14:79324461-79324462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11848889	chr14:79324599-79324600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34511116	chr14:79324660-79324661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377521605	chr14:79324667-79324668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147609964	chr14:79324681-79324682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575218761	chr14:79324682-79324683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559153643	chr14:79324686-79324687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528190041	chr14:79324708-79324709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73321619	chr14:79324719-79324720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540730790	chr14:79324755-79324756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560343687	chr14:79324770-79324771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192727932	chr14:79324800-79324801	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76273613	chr14:79324805-79324806	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142205882	chr14:79324829-79324830	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4899727	chr14:79324853-79324854	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184742868	chr14:79324863-79324864	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189258998	chr14:79324879-79324880	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568053859	chr14:79324955-79324956	Enhancers Active TSS	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	17440070	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79316600-79324400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:79324000-79325800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:79324400-79324800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr14:79324400-79325200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:79324400-79326000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:79324600-79324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:79324600-79325600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:79324600-79325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79324600-79326000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:79324800-79325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:79324800-79325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:79325000-79325800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:79325200-79326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:79325800-79335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:79334600-79335000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:79335000-79335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:79335200-79335600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:79335400-79335600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:79335600-79338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:79335600-79341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:79337000-79337400	Enhancers	Fetal Brain Female	brain
22	chr14:79337400-79342400	Weak transcription	Fetal Brain Female	brain
23	chr14:79338400-79341000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:79339200-79339400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:79339400-79341000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:79341000-79341400	Enhancers	Brain Angular Gyrus	brain
27	chr14:79341000-79341400	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:79341000-79341600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:79341000-79341600	Enhancers	Fetal Brain Male	brain
30	chr14:79341000-79342200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:79341000-79342600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:79341000-79342600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:79341000-79342800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:79341200-79341800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:79341200-79342600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:79341400-79341600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr14:79341400-79343000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:79341600-79342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:79341600-79343200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:79342000-79342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:79342200-79342400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr14:79342400-79342600	Enhancers	Fetal Brain Female	brain
43	chr14:79357400-79358000	Enhancers	Fetal Brain Male	brain
44	chr14:79357400-79360000	Enhancers	Brain Germinal Matrix	brain
45	chr14:79357600-79358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:79358000-79358400	Weak transcription	Fetal Brain Male	brain
47	chr14:79358200-79359400	Enhancers	Brain Hippocampus Middle	brain
48	chr14:79358400-79358600	Enhancers	Brain Anterior Caudate	brain
49	chr14:79358400-79358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:79358400-79359400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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