Variant report

Variant	nsv947067
Chromosome Location	chr1:224140479-224152588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:224144651-224145050	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:224146909-224147154	K562	blood:	n/a	n/a
3	CEBPB	chr1:224146942-224147108	K562	blood:	n/a	n/a
4	CEBPB	chr1:224149750-224150127	IMR90	lung:	n/a	chr1:224149926-224149937
5	CEBPB	chr1:224140423-224140638	IMR90	lung:	n/a	n/a
6	CTCF	chr1:224140480-224140804	K562	blood:	n/a	n/a
7	CTCF	chr1:224146984-224147002	GM20000	blood:	n/a	n/a
8	CTCF	chr1:224140404-224140693	K562	blood:	n/a	n/a
9	CTCF	chr1:224140489-224140701	K562	blood:	n/a	n/a
10	FOS	chr1:224149930-224150119	MCF10A-Er-Src	breast:	n/a	chr1:224149953-224149961 chr1:224149949-224149960 chr1:224149954-224149961
11	FOS	chr1:224140438-224140644	MCF10A-Er-Src	breast:	n/a	chr1:224140550-224140558 chr1:224140546-224140557
12	FOS	chr1:224149933-224150020	MCF10A-Er-Src	breast:	n/a	chr1:224149953-224149961 chr1:224149949-224149960 chr1:224149954-224149961
13	FOS	chr1:224149928-224150121	MCF10A-Er-Src	breast:	n/a	chr1:224149953-224149961 chr1:224149949-224149960 chr1:224149954-224149961
14	FOS	chr1:224141451-224141475	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:224140438-224140634	MCF10A-Er-Src	breast:	n/a	chr1:224140550-224140558 chr1:224140546-224140557
16	FOS	chr1:224140432-224140645	MCF10A-Er-Src	breast:	n/a	chr1:224140550-224140558 chr1:224140546-224140557
17	FOSL2	chr1:224152388-224152661	HepG2	liver:	n/a	n/a
18	GABPA	chr1:224149749-224150032	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr1:224149894-224150020	Hela-S3	cervix:	n/a	n/a
20	MYC	chr1:224140445-224140632	MCF10A-Er-Src	breast:	n/a	n/a
21	PAX5	chr1:224144485-224144943	GM12878	blood:	n/a	n/a
22	PAX5	chr1:224144574-224144775	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:224144586-224144818	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:224149627-224150162	U87	brain:	n/a	n/a
25	POLR2A	chr1:224140370-224140722	U87	brain:	n/a	n/a
26	POLR2A	chr1:224149543-224150259	U87	brain:	n/a	n/a
27	POLR2A	chr1:224149719-224149941	U87	brain:	n/a	n/a
28	POU2F2	chr1:224144520-224144963	GM12878	blood:	n/a	n/a
29	REST	chr1:224144963-224145101	HepG2	liver:	n/a	n/a
30	REST	chr1:224144597-224145132	PANC-1	pancreas:	n/a	n/a
31	REST	chr1:224144860-224145238	SK-N-SH	brain:	n/a	n/a
32	REST	chr1:224144880-224145193	GM12878	blood:	n/a	n/a
33	REST	chr1:224144944-224145112	HepG2	liver:	n/a	n/a
34	REST	chr1:224144966-224145187	SK-N-SH	brain:	n/a	n/a
35	REST	chr1:224144929-224145152	PANC-1	pancreas:	n/a	n/a
36	REST	chr1:224144557-224145372	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr1:224144958-224145112	GM12878	blood:	n/a	n/a
38	REST	chr1:224144882-224145141	GM12878	blood:	n/a	n/a
39	REST	chr1:224144518-224145276	U87	brain:	n/a	n/a
40	REST	chr1:224144944-224145112	PFSK-1	brain:	n/a	n/a
41	REST	chr1:224144598-224145176	PFSK-1	brain:	n/a	n/a
42	REST	chr1:224144958-224145139	HepG2	liver:	n/a	n/a
43	REST	chr1:224144521-224145348	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIX5	chr1:224144614-224144846	K562	blood:	n/a	n/a
45	SPI1	chr1:224144911-224145076	GM12878	blood:	n/a	n/a
46	STAT3	chr1:224140424-224140644	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr1:224140423-224140784	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr1:224149922-224150122	MCF10A-Er-Src	breast:	n/a	chr1:224149970-224149984 chr1:224149967-224149987 chr1:224149973-224149982 chr1:224149972-224149981 chr1:224149967-224149987 chr1:224149971-224149982
49	STAT3	chr1:224140424-224140643	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:224149930-224150134	MCF10A-Er-Src	breast:	n/a	chr1:224149970-224149984 chr1:224149967-224149987 chr1:224149973-224149982 chr1:224149972-224149981 chr1:224149967-224149987 chr1:224149971-224149982

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-4	chr1:224150312-224150411	NONHSAT009754
2	lnc-TP53BP2-4	chr1:224149779-224150042	NONHSAT009754
3	lnc-TP53BP2-1	chr1:224151308-224152241	XLOC_001223
4	lnc-TP53BP2-4	chr1:224149779-224150142	NONHSAT009753
5	lnc-TP53BP2-4	chr1:224148701-224148934	NONHSAT009753

Variant related genes	Relation type
ENSG00000272645	TF binding region
AHCYL2	miRNA target sites

Extended variants
information (count: 359 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533514141	chr1:224140491-224140492	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551708258	chr1:224140528-224140529	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566765597	chr1:224140549-224140550	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373142730	chr1:224140560-224140561	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183000358	chr1:224140634-224140635	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187291148	chr1:224140642-224140643	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535260403	chr1:224140668-224140669	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556784362	chr1:224140672-224140673	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193149257	chr1:224140776-224140777	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545588204	chr1:224140780-224140781	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557703307	chr1:224140812-224140813	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377388715	chr1:224140813-224140814	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61825426	chr1:224140834-224140835	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540251922	chr1:224140835-224140836	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374327911	chr1:224140895-224140896	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562353889	chr1:224140919-224140920	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574430165	chr1:224140936-224140937	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377652341	chr1:224140959-224140960	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113566579	chr1:224140965-224140966	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544819820	chr1:224141010-224141011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563079077	chr1:224141040-224141041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533429603	chr1:224141043-224141044	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551603962	chr1:224141050-224141051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200407459	chr1:224141083-224141084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201481335	chr1:224141107-224141108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201068138	chr1:224141111-224141112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202220898	chr1:224141131-224141132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374039119	chr1:224141142-224141143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368122890	chr1:224141146-224141147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370445271	chr1:224141189-224141190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373867444	chr1:224141195-224141196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527667213	chr1:224141200-224141201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549398908	chr1:224141243-224141244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150449660	chr1:224141249-224141250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185647035	chr1:224141288-224141289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369475887	chr1:224141298-224141299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530970833	chr1:224141327-224141328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551082913	chr1:224141330-224141331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372235033	chr1:224141358-224141359	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188604265	chr1:224141359-224141360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143989969	chr1:224141362-224141363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368399970	chr1:224141364-224141365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557546171	chr1:224141385-224141386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372552790	chr1:224141456-224141457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375479906	chr1:224141496-224141497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111385654	chr1:224141512-224141513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572928997	chr1:224141530-224141531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369598301	chr1:224141572-224141573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553894916	chr1:224141895-224141896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371558183	chr1:224141896-224141897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224135800-224149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:224136600-224149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224137800-224160600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:224138000-224141000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:224138000-224148200	Weak transcription	Liver	Liver
7	chr1:224138000-224162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:224138000-224163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:224138000-224170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:224138200-224149800	Weak transcription	Right Ventricle	heart
12	chr1:224138200-224150400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:224138200-224179200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:224138200-224179600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:224138200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:224138400-224140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:224138400-224140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:224138400-224149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:224138400-224179600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:224138400-224179800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:224138600-224141000	Strong transcription	Fetal Stomach	stomach
22	chr1:224138600-224141200	Weak transcription	Gastric	stomach
23	chr1:224138600-224179600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:224138800-224179800	Weak transcription	Left Ventricle	heart
25	chr1:224139600-224141000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:224139800-224152800	Weak transcription	Spleen	Spleen
27	chr1:224139800-224158400	Weak transcription	Lung	lung
28	chr1:224139800-224161000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:224139800-224163200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:224139800-224174000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:224139800-224179600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:224140000-224141200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:224140000-224141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:224140000-224170000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:224140200-224148800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:224140200-224179800	Weak transcription	Placenta	Placenta
37	chr1:224140400-224149600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:224140400-224152600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:224140400-224160600	Weak transcription	Ovary	ovary
40	chr1:224140400-224179200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:224140400-224179800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:224140600-224160600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:224141000-224141400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:224141000-224149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:224141000-224149600	Weak transcription	Fetal Stomach	stomach
46	chr1:224141400-224148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:224141400-224179200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:224145000-224179800	Weak transcription	Primary T cells from cord blood	blood
49	chr1:224146800-224179600	Weak transcription	Fetal Intestine Large	intestine
50	chr1:224148200-224150200	Strong transcription	Liver	Liver

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