Variant report

Variant	nsv945766
Chromosome Location	chr1:10112529-10115229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:10112840-10112990	AG10803	skin:	n/a	n/a
2	CTCF	chr1:10113791-10113812	GM10248	blood:	n/a	n/a
3	FOXA2	chr1:10114837-10115213	A549	lung:	n/a	n/a
4	POLR2A	chr1:10113809-10113858	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:10115178-10115681	K562	blood:	n/a	n/a
6	REST	chr1:10115022-10115083	GM12878	blood:	n/a	n/a
7	YY1	chr1:10114917-10115121	A549	lung:	n/a	n/a
8	ZMIZ1	chr1:10112542-10112553	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10108121..10110683-chr1:10111233..10113917,2	K562	blood:
2	chr1:10111075..10113333-chr1:10123420..10125098,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LZIC-2	chr1:10114503-10114839	NONHSAT000838

No data

Variant related genes	Relation type
ENSG00000224340	TF binding region
PGAM1P11	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561454383	chr1:10112579-10112580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144267748	chr1:10112582-10112583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181523675	chr1:10112663-10112664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531652819	chr1:10112689-10112690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546175598	chr1:10112728-10112729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550057390	chr1:10112741-10112742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571358344	chr1:10112755-10112756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564061544	chr1:10112839-10112840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541242756	chr1:10112875-10112876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148749176	chr1:10112898-10112899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184476238	chr1:10112950-10112951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371383122	chr1:10112983-10112984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533132603	chr1:10112990-10112991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551739094	chr1:10112995-10112996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376795512	chr1:10113011-10113012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142247248	chr1:10113082-10113083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538150575	chr1:10113134-10113135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147878525	chr1:10113157-10113158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188791705	chr1:10113186-10113187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563528391	chr1:10113269-10113270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545617930	chr1:10113270-10113271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531748195	chr1:10113362-10113363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572190287	chr1:10113367-10113368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372645590	chr1:10113371-10113372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11807784	chr1:10113390-10113391	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560875031	chr1:10113404-10113405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531287595	chr1:10113429-10113430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368522291	chr1:10113438-10113439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543049492	chr1:10113458-10113459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565226470	chr1:10113486-10113487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532292888	chr1:10113499-10113500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11806378	chr1:10113533-10113534	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181226243	chr1:10113551-10113552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145655095	chr1:10113568-10113569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549027849	chr1:10113585-10113586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567417027	chr1:10113590-10113591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185346063	chr1:10113594-10113595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568591961	chr1:10113605-10113606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371364445	chr1:10113635-10113636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189661770	chr1:10113637-10113638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11586245	chr1:10113639-10113640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538932816	chr1:10113723-10113724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554358157	chr1:10113763-10113764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377088763	chr1:10113805-10113806	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75051538	chr1:10113816-10113817	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187031332	chr1:10113828-10113829	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576198834	chr1:10113840-10113841	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147753372	chr1:10113843-10113844	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564704223	chr1:10113877-10113878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577090076	chr1:10113941-10113942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	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
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	19638189	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10094800-10119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:10095000-10115000	Weak transcription	A549	lung
3	chr1:10095000-10115400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:10095000-10116000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:10095000-10116200	Weak transcription	HSMM	muscle
6	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:10095400-10115600	Weak transcription	HUVEC	blood vessel
10	chr1:10098800-10116000	Weak transcription	Hela-S3	cervix
11	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:10101800-10113400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:10103000-10116200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:10105200-10113200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
16	chr1:10106800-10115000	Weak transcription	HepG2	liver
17	chr1:10106800-10116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:10106800-10118000	Weak transcription	Fetal Kidney	kidney
19	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:10107000-10115400	Weak transcription	NHDF-Ad	bronchial
23	chr1:10107000-10115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:10107000-10115600	Weak transcription	Lung	lung
25	chr1:10107000-10117600	Weak transcription	Aorta	Aorta
26	chr1:10107000-10118600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
30	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:10107200-10114400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:10107200-10115400	Weak transcription	NHEK	skin
33	chr1:10107200-10115400	Weak transcription	NHLF	lung
34	chr1:10107200-10116600	Weak transcription	Right Atrium	heart
35	chr1:10107200-10116800	Weak transcription	Gastric	stomach
36	chr1:10107200-10118600	Weak transcription	Spleen	Spleen
37	chr1:10107200-10118800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:10107200-10124000	Weak transcription	Fetal Brain Female	brain
39	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:10107400-10112800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:10107400-10115400	Weak transcription	Liver	Liver
43	chr1:10107400-10116000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:10107400-10124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:10107400-10124200	Strong transcription	Fetal Intestine Small	intestine
46	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:10107600-10115200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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