Variant report

Variant	nsv904260
Chromosome Location	chr15:58257123-58276747
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	BCL3	chr15:58271936-58273098	K562	blood:	n/a	chr15:58272172-58272180
2	BCL3	chr15:58263324-58263963	K562	blood:	n/a	n/a
3	CCNT2	chr15:58272357-58272780	K562	blood:	n/a	n/a
4	CEBPB	chr15:58261686-58261938	A549	lung:	n/a	n/a
5	CHD2	chr15:58271663-58271760	K562	blood:	n/a	n/a
6	CHD2	chr15:58272408-58272625	K562	blood:	n/a	n/a
7	CTCF	chr15:58261700-58261850	BJ	skin:	n/a	chr15:58261738-58261756
8	CTCF	chr15:58261620-58261770	HVMF	connective:	n/a	chr15:58261738-58261756
9	CTCF	chr15:58261675-58261787	SK-N-SH_RA	brain:	n/a	chr15:58261738-58261756
10	CTCF	chr15:58261623-58261856	K562	blood:	n/a	chr15:58261738-58261756
11	CTCF	chr15:58261696-58261775	LNCaP	prostate:	n/a	chr15:58261738-58261756
12	CTCF	chr15:58261640-58261790	AG04449	skin:	n/a	chr15:58261738-58261756
13	CTCF	chr15:58261701-58261750	Lung_OC	lung:	n/a	n/a
14	CTCF	chr15:58261666-58261815	A549	lung:	n/a	chr15:58261738-58261756
15	CTCF	chr15:58261693-58261808	Fibrobl	skin:	n/a	chr15:58261738-58261756
16	CTCF	chr15:58261668-58261824	HepG2	liver:	n/a	chr15:58261738-58261756
17	CTCF	chr15:58261718-58261781	GM12892	blood:	n/a	chr15:58261738-58261756
18	CTCF	chr15:58261678-58261805	GM19238	blood:	n/a	chr15:58261738-58261756
19	CTCF	chr15:58261640-58261790	Hela-S3	cervix:	n/a	chr15:58261738-58261756
20	CTCF	chr15:58261620-58261770	AG09309	skin:	n/a	chr15:58261738-58261756
21	CTCF	chr15:58261660-58261810	HMEC	breast:	n/a	chr15:58261738-58261756
22	CTCF	chr15:58261660-58261810	HBMEC	blood vessel:	n/a	chr15:58261738-58261756
23	CTCF	chr15:58261680-58261830	HUVEC	blood vessel:	n/a	chr15:58261738-58261756
24	CTCF	chr15:58261700-58261850	SAEC	small airway:	n/a	chr15:58261738-58261756
25	CTCF	chr15:58261660-58261810	HFF-Myc	foreskin:	n/a	chr15:58261738-58261756
26	CTCF	chr15:58261667-58261827	Hela-S3	cervix:	n/a	chr15:58261738-58261756
27	CTCF	chr15:58261665-58261836	Pancreas_OC	pancreas:	n/a	chr15:58261738-58261756
28	CTCF	chr15:58261640-58261790	AG10803	skin:	n/a	chr15:58261738-58261756
29	CTCF	chr15:58261680-58261830	AG04450	lung:	n/a	chr15:58261738-58261756
30	CTCF	chr15:58261700-58261850	AG09319	gingival:	n/a	chr15:58261738-58261756
31	CTCF	chr15:58261660-58261810	HPF	lung:	n/a	chr15:58261738-58261756
32	CTCF	chr15:58269466-58269505	GM20000	blood:	n/a	n/a
33	CTCF	chr15:58261660-58261810	HCPEpiC	choroid plexus:	n/a	chr15:58261738-58261756
34	CTCF	chr15:58261680-58261830	AG10803	skin:	n/a	chr15:58261738-58261756
35	CTCF	chr15:58261697-58261797	Gliobla	brain:	n/a	chr15:58261738-58261756
36	CTCF	chr15:58261664-58261808	GM12878	blood:	n/a	chr15:58261738-58261756
37	CTCF	chr15:58261603-58261814	H1-hESC	embryonic stem cell:	n/a	chr15:58261738-58261756
38	CTCF	chr15:58261620-58261770	SK-N-SH_RA	brain:	n/a	chr15:58261738-58261756
39	CTCF	chr15:58261680-58261830	SAEC	small airway:	n/a	chr15:58261738-58261756
40	CTCF	chr15:58261714-58261790	GM12891	blood:	n/a	chr15:58261738-58261756
41	CTCF	chr15:58261680-58261830	AG04449	skin:	n/a	chr15:58261738-58261756
42	CTCF	chr15:58261680-58261830	HRE	kidney:	n/a	chr15:58261738-58261756
43	CTCF	chr15:58261640-58261790	HA-sp	spinal cord:	n/a	chr15:58261738-58261756
44	CTCF	chr15:58261636-58261855	MCF-7	breast:	n/a	chr15:58261738-58261756
45	CTCF	chr15:58261639-58261858	HepG2	liver:	n/a	chr15:58261738-58261756
46	CTCF	chr15:58261622-58261905	MCF-7	breast:	n/a	chr15:58261738-58261756
47	CTCF	chr15:58261680-58261830	MCF-7	breast:	n/a	chr15:58261738-58261756
48	CTCF	chr15:58261540-58261690	A549	lung:	n/a	n/a
49	CTCF	chr15:58261686-58261822	MCF-7	breast:	n/a	chr15:58261738-58261756
50	CTCF	chr15:58261660-58261810	HA-sp	spinal cord:	n/a	chr15:58261738-58261756

No.	Distal block	Cell Line	Cell type
1	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:
2	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
3	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:
4	chr15:58256067..58257569-chr15:58262766..58264756,2	K562	blood:
5	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
6	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
7	chr15:58261244..58261767-chr15:58513997..58514512,2	K562	blood:
8	chr15:58275181..58277335-chr15:58278541..58280252,2	K562	blood:
9	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
10	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
11	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
12	chr15:58251581..58253908-chr15:58262136..58263877,2	K562	blood:
13	chr15:58261336..58261843-chr15:58474684..58475338,2	K562	blood:
14	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
15	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
16	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
17	chr15:58205888..58208122-chr15:58265486..58268281,2	K562	blood:
18	chr15:58260270..58262441-chr15:58476385..58479078,2	K562	blood:
19	chr15:58261650..58262263-chr15:58358090..58358808,2	MCF-7	breast:
20	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
21	chr15:58260833..58263956-chr15:58356414..58359716,3	K562	blood:
22	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:

Variant related genes	Relation type
ENSG00000259477	TF binding region
ALDH1A2	TF binding region
ENSG00000259285	chromatin interactions
ENSG00000128918	chromatin interactions

Extended variants
information (count: 930 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4646623	chr15:58257123-58257124	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572083027	chr15:58257137-58257138	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541102915	chr15:58257149-58257150	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189932746	chr15:58257163-58257164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112218797	chr15:58257198-58257199	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4646622	chr15:58257199-58257200	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549275692	chr15:58257200-58257201	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562850342	chr15:58257207-58257208	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531880569	chr15:58257212-58257213	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs35907511	chr15:58257227-58257228	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571292332	chr15:58257259-58257260	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533927253	chr15:58257269-58257270	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs34326448	chr15:58257280-58257281	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547894699	chr15:58257281-58257282	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553484179	chr15:58257305-58257306	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs894340	chr15:58257345-58257346	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34003390	chr15:58257403-58257404	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566949945	chr15:58257410-58257411	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576449085	chr15:58257418-58257419	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146045346	chr15:58257422-58257423	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536125732	chr15:58257436-58257437	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181186631	chr15:58257439-58257440	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571984766	chr15:58257452-58257453	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs540640707	chr15:58257454-58257455	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561052114	chr15:58257474-58257475	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574408712	chr15:58257480-58257481	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542860543	chr15:58257515-58257516	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs74613402	chr15:58257556-58257557	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531916273	chr15:58257561-58257562	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs35366060	chr15:58257569-58257570	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs183925159	chr15:58257589-58257590	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527704371	chr15:58257598-58257599	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35994637	chr15:58257637-58257638	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs35449048	chr15:58257656-58257657	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112348598	chr15:58257657-58257658	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149791747	chr15:58257669-58257670	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530131832	chr15:58257670-58257671	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188256874	chr15:58257676-58257677	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569848519	chr15:58257715-58257716	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs144722056	chr15:58257734-58257735	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs148569497	chr15:58257748-58257749	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111952715	chr15:58257796-58257797	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34735394	chr15:58257820-58257821	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565802107	chr15:58257821-58257822	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs74017082	chr15:58257836-58257837	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554220335	chr15:58257844-58257845	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3784259	chr15:58257847-58257848	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs543099523	chr15:58257850-58257851	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374709940	chr15:58257857-58257858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544879752	chr15:58257864-58257865	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58248800-58262400	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:58249000-58259200	Strong transcription	K562	blood
3	chr15:58253800-58271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:58253800-58284800	Weak transcription	Ovary	ovary
5	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
6	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
7	chr15:58255400-58258200	Weak transcription	Fetal Lung	lung
8	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
9	chr15:58256400-58258000	Strong transcription	Fetal Kidney	kidney
10	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
11	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
12	chr15:58258200-58259000	Enhancers	Fetal Lung	lung
13	chr15:58258600-58259000	Enhancers	Placenta	Placenta
14	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
15	chr15:58259200-58261200	Weak transcription	K562	blood
16	chr15:58260000-58260200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:58260000-58260200	Enhancers	Left Ventricle	heart
18	chr15:58260000-58260200	Enhancers	Right Atrium	heart
19	chr15:58260000-58260400	Enhancers	Fetal Kidney	kidney
20	chr15:58260000-58260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:58260200-58260400	Weak transcription	Right Atrium	heart
22	chr15:58260400-58272000	Weak transcription	Fetal Kidney	kidney
23	chr15:58261200-58262800	Strong transcription	K562	blood
24	chr15:58262000-58262200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:58262400-58262600	Enhancers	Fetal Muscle Leg	muscle
26	chr15:58262600-58287800	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:58262800-58272000	Weak transcription	K562	blood
28	chr15:58264600-58266200	Enhancers	Fetal Lung	lung
29	chr15:58265800-58266200	Enhancers	Fetal Heart	heart
30	chr15:58271600-58272600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:58272000-58272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:58272000-58272600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr15:58272000-58272800	Strong transcription	Fetal Kidney	kidney
34	chr15:58272000-58272800	Strong transcription	K562	blood
35	chr15:58272200-58272400	Bivalent Enhancer	Thymus	Thymus
36	chr15:58272200-58272800	Enhancers	Right Ventricle	heart
37	chr15:58272600-58273000	Weak transcription	Fetal Stomach	stomach
38	chr15:58272600-58284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:58272800-58274200	Weak transcription	K562	blood
40	chr15:58272800-58276600	Weak transcription	Fetal Kidney	kidney
41	chr15:58273400-58274000	Enhancers	Liver	Liver
42	chr15:58274200-58276400	Strong transcription	K562	blood
43	chr15:58275000-58275400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:58276200-58284600	Weak transcription	HUVEC	blood vessel
45	chr15:58276400-58283600	Weak transcription	K562	blood
46	chr15:58276600-58278000	Strong transcription	Fetal Kidney	kidney

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