Variant report

Variant	nsv546633
Chromosome Location	chr1:79794719-79877035
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:10)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:79810637..79813588-chr1:79825621..79828347,3	MCF-7	breast:
2	chr1:79266346..79267150-chr1:79858034..79858765,3	MCF-7	breast:
3	chr1:79860008..79862521-chr1:79862746..79865099,2	MCF-7	breast:
4	chr1:79725343..79726033-chr1:79818640..79819391,2	MCF-7	breast:
5	chr1:79411840..79414575-chr1:79858123..79860401,2	K562	blood:
6	chr1:79810637..79813588-chr1:79825621..79828347,3	MCF-7	breast:
7	chr1:79860008..79862521-chr1:79862746..79865099,2	MCF-7	breast:
8	chr1:79812849..79814988-chr1:79816549..79819262,2	MCF-7	breast:
9	chr1:79826260..79828689-chr6:111008268..111010656,2	MCF-7	breast:
10	chr1:79812849..79814988-chr1:79816549..79819262,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266
2	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266
3	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266
4	lnc-IFI44-2	chr1:79869656-79870246	NONHSAT004088
5	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266
6	lnc-IFI44-2	chr1:79869657-79870246	XLOC_000266
7	lnc-IFI44-2	chr1:79868876-79868927	XLOC_000266
8	lnc-IFI44-2	chr1:79842763-79842816	XLOC_000266
9	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266
10	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266

No data

Variant related genes	Relation type
SH3PXD2A	miRNA target sites
PHF17	miRNA target sites
RELA	miRNA target sites
MSN	miRNA target sites

Extended variants
information (count: 1160 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10732727	chr1:79794719-79794720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574497858	chr1:79794782-79794783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534751340	chr1:79794799-79794800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577044772	chr1:79794884-79794885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544313194	chr1:79794893-79794894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369407203	chr1:79794902-79794903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557578521	chr1:79794918-79794919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575751753	chr1:79794919-79794920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543165093	chr1:79794935-79794936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12025430	chr1:79795006-79795007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368701598	chr1:79795019-79795020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118091219	chr1:79795030-79795031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540260313	chr1:79795032-79795033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534797551	chr1:79795040-79795041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556692777	chr1:79795104-79795105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564922346	chr1:79795115-79795116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150104507	chr1:79795151-79795152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550700181	chr1:79795193-79795194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375619096	chr1:79795271-79795272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35321235	chr1:79795303-79795304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569278144	chr1:79795310-79795311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529933669	chr1:79795342-79795343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548495138	chr1:79795456-79795457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190323417	chr1:79795480-79795481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533995041	chr1:79795514-79795515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558646737	chr1:79795528-79795529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573766356	chr1:79795560-79795561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537988197	chr1:79795574-79795575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555877862	chr1:79795605-79795606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574409194	chr1:79795613-79795614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116798302	chr1:79795644-79795645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181614745	chr1:79795695-79795696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573066397	chr1:79795723-79795724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540435435	chr1:79795754-79795755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564989239	chr1:79795781-79795782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532464199	chr1:79795818-79795819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138479232	chr1:79795826-79795827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557032214	chr1:79795858-79795859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562721713	chr1:79795917-79795918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530132320	chr1:79796023-79796024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548153706	chr1:79796029-79796030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560468465	chr1:79796092-79796093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555078741	chr1:79796103-79796104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112033014	chr1:79796104-79796105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397829945	chr1:79796105-79796106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377549217	chr1:79796115-79796116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527438118	chr1:79796135-79796136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552399000	chr1:79796162-79796163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186133333	chr1:79796191-79796192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546168160	chr1:79796199-79796200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79792400-79795800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:79794000-79798400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:79795200-79795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:79795200-79795800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:79795400-79795600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:79795600-79797400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:79795600-79797600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:79795800-79796000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:79795800-79798400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:79796000-79796400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:79796400-79796600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:79796600-79801400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:79797400-79797800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:79797400-79800000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:79797600-79797800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:79797600-79799200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:79797800-79798800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:79797800-79799400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:79798200-79799000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:79798200-79799600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:79798400-79798800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:79798400-79799000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:79798800-79799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:79798800-79801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:79799000-79801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:79799000-79802600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:79799000-79802800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:79799200-79801200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:79799400-79800000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:79799600-79801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:79800000-79801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:79801000-79801800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:79801200-79801800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:79801200-79801800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:79801200-79801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:79801200-79802800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:79801400-79802000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:79801400-79802600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr1:79802600-79803400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:79802800-79803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:79808400-79808800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:79818600-79819000	Enhancers	GM12878-XiMat	blood
43	chr1:79818800-79819200	Enhancers	Adipose Nuclei	Adipose
44	chr1:79818800-79819600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:79818800-79821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:79819200-79819400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:79819200-79819400	Enhancers	NHDF-Ad	bronchial
48	chr1:79819200-79819600	Enhancers	Osteobl	bone
49	chr1:79819600-79820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:79819600-79820600	Weak transcription	NHDF-Ad	bronchial

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