Variant report

Variant	nsv904259
Chromosome Location	chr15:58256296-58274229
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	chr15:58261600-58261750	RPTEC	kidney:	n/a	n/a
8	CTCF	chr15:58261575-58261939	MCF-7	breast:	n/a	chr15:58261738-58261756
9	CTCF	chr15:58261667-58261810	ProgFib	skin:	n/a	chr15:58261738-58261756
10	CTCF	chr15:58261700-58261850	BJ	skin:	n/a	chr15:58261738-58261756
11	CTCF	chr15:58261580-58261730	GM12872	blood:	n/a	n/a
12	CTCF	chr15:58262040-58262190	BE2_C	brain:	n/a	n/a
13	CTCF	chr15:58261700-58261850	Hela-S3	cervix:	n/a	chr15:58261738-58261756
14	CTCF	chr15:58261686-58261822	MCF-7	breast:	n/a	chr15:58261738-58261756
15	CTCF	chr15:58261681-58261811	MCF-7	breast:	n/a	chr15:58261738-58261756
16	CTCF	chr15:58261656-58261825	A549	lung:	n/a	chr15:58261738-58261756
17	CTCF	chr15:58261680-58261830	HRE	kidney:	n/a	chr15:58261738-58261756
18	CTCF	chr15:58261636-58261855	MCF-7	breast:	n/a	chr15:58261738-58261756
19	CTCF	chr15:58261660-58261810	HepG2	liver:	n/a	chr15:58261738-58261756
20	CTCF	chr15:58261660-58261810	AG09309	skin:	n/a	chr15:58261738-58261756
21	CTCF	chr15:58261540-58261690	A549	lung:	n/a	n/a
22	CTCF	chr15:58261678-58261805	GM19238	blood:	n/a	chr15:58261738-58261756
23	CTCF	chr15:58261693-58261808	Fibrobl	skin:	n/a	chr15:58261738-58261756
24	CTCF	chr15:58261620-58261770	A549	lung:	n/a	chr15:58261738-58261756
25	CTCF	chr15:58261640-58261790	HMF	breast:	n/a	chr15:58261738-58261756
26	CTCF	chr15:58261680-58261830	BJ	skin:	n/a	chr15:58261738-58261756
27	CTCF	chr15:58261678-58261817	H1-hESC	embryonic stem cell:	n/a	chr15:58261738-58261756
28	CTCF	chr15:58261701-58261750	Lung_OC	lung:	n/a	n/a
29	CTCF	chr15:58261645-58261842	K562	blood:	n/a	chr15:58261738-58261756
30	CTCF	chr15:58261740-58262030	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr15:58261660-58261810	HPAF	blood vessel:	n/a	chr15:58261738-58261756
32	CTCF	chr15:58261700-58261850	HMF	breast:	n/a	chr15:58261738-58261756
33	CTCF	chr15:58261640-58261790	AG04449	skin:	n/a	chr15:58261738-58261756
34	CTCF	chr15:58261700-58261850	RPTEC	kidney:	n/a	chr15:58261738-58261756
35	CTCF	chr15:58261660-58261810	BE2_C	brain:	n/a	chr15:58261738-58261756
36	CTCF	chr15:58261680-58261830	AG10803	skin:	n/a	chr15:58261738-58261756
37	CTCF	chr15:58261660-58261810	HMEC	breast:	n/a	chr15:58261738-58261756
38	CTCF	chr15:58261640-58261790	Hela-S3	cervix:	n/a	chr15:58261738-58261756
39	CTCF	chr15:58261665-58261836	Pancreas_OC	pancreas:	n/a	chr15:58261738-58261756
40	CTCF	chr15:58261674-58261822	LNCaP	prostate:	n/a	chr15:58261738-58261756
41	CTCF	chr15:58269466-58269505	GM20000	blood:	n/a	n/a
42	CTCF	chr15:58261640-58261790	NHDF-neo	bronchial:	n/a	chr15:58261738-58261756
43	CTCF	chr15:58261666-58261811	Medullo	brain:	n/a	chr15:58261738-58261756
44	CTCF	chr15:58261700-58261850	GM06990	blood:	n/a	chr15:58261738-58261756
45	CTCF	chr15:58261623-58261856	K562	blood:	n/a	chr15:58261738-58261756
46	CTCF	chr15:58261620-58261770	AG09309	skin:	n/a	chr15:58261738-58261756
47	CTCF	chr15:58261640-58261790	AG04450	lung:	n/a	chr15:58261738-58261756
48	CTCF	chr15:58261640-58261790	BE2_C	brain:	n/a	chr15:58261738-58261756
49	CTCF	chr15:58261660-58261810	HBMEC	blood vessel:	n/a	chr15:58261738-58261756
50	CTCF	chr15:58261600-58261750	HCFaa	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
2	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
3	chr15:58251581..58253908-chr15:58262136..58263877,2	K562	blood:
4	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
5	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
6	chr15:58256067..58257569-chr15:58262766..58264756,2	K562	blood:
7	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
8	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
9	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
10	chr15:58205888..58208122-chr15:58265486..58268281,2	K562	blood:
11	chr15:58261244..58261767-chr15:58513997..58514512,2	K562	blood:
12	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
13	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
14	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
15	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
16	chr15:58260833..58263956-chr15:58356414..58359716,3	K562	blood:
17	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:
18	chr15:58261336..58261843-chr15:58474684..58475338,2	K562	blood:
19	chr15:58261650..58262263-chr15:58358090..58358808,2	MCF-7	breast:
20	chr15:58260270..58262441-chr15:58476385..58479078,2	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: 843 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4646625	chr15:58256296-58256297	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371746910	chr15:58256304-58256305	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568894798	chr15:58256329-58256330	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537977490	chr15:58256330-58256331	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34474303	chr15:58256365-58256366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577679957	chr15:58256394-58256395	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35214579	chr15:58256395-58256396	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548803596	chr15:58256411-58256412	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553929285	chr15:58256425-58256426	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573894154	chr15:58256481-58256482	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138118724	chr15:58256489-58256490	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562499832	chr15:58256516-58256517	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531356324	chr15:58256530-58256531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190170803	chr15:58256576-58256577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564979950	chr15:58256668-58256669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2414527	chr15:58256672-58256673	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs546922607	chr15:58256737-58256738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193156975	chr15:58256751-58256752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529594116	chr15:58256767-58256768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34271864	chr15:58256800-58256801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569179623	chr15:58256809-58256810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34932382	chr15:58256821-58256822	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376308956	chr15:58256844-58256845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551315978	chr15:58256850-58256851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571454961	chr15:58256886-58256887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534291189	chr15:58256889-58256890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553719817	chr15:58256908-58256909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573760060	chr15:58256910-58256911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536034472	chr15:58256947-58256948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112280844	chr15:58256986-58256987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556514318	chr15:58256988-58256989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576366913	chr15:58257055-58257056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs60560441	chr15:58257065-58257066	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs35900102	chr15:58257087-58257088	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4646623	chr15:58257123-58257124	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572083027	chr15:58257137-58257138	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs541102915	chr15:58257149-58257150	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs189932746	chr15:58257163-58257164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112218797	chr15:58257198-58257199	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs4646622	chr15:58257199-58257200	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549275692	chr15:58257200-58257201	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562850342	chr15:58257207-58257208	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs531880569	chr15:58257212-58257213	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs35907511	chr15:58257227-58257228	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571292332	chr15:58257259-58257260	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533927253	chr15:58257269-58257270	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34326448	chr15:58257280-58257281	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547894699	chr15:58257281-58257282	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553484179	chr15:58257305-58257306	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs894340	chr15:58257345-58257346	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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	chr15:58254000-58256400	Weak transcription	Fetal Kidney	kidney
6	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
7	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
8	chr15:58255000-58256400	Enhancers	NHEK	skin
9	chr15:58255000-58256600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:58255200-58256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:58255400-58258200	Weak transcription	Fetal Lung	lung
12	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
13	chr15:58256400-58258000	Strong transcription	Fetal Kidney	kidney
14	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
15	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
16	chr15:58258200-58259000	Enhancers	Fetal Lung	lung
17	chr15:58258600-58259000	Enhancers	Placenta	Placenta
18	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
19	chr15:58259200-58261200	Weak transcription	K562	blood
20	chr15:58260000-58260200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:58260000-58260200	Enhancers	Left Ventricle	heart
22	chr15:58260000-58260200	Enhancers	Right Atrium	heart
23	chr15:58260000-58260400	Enhancers	Fetal Kidney	kidney
24	chr15:58260000-58260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:58260200-58260400	Weak transcription	Right Atrium	heart
26	chr15:58260400-58272000	Weak transcription	Fetal Kidney	kidney
27	chr15:58261200-58262800	Strong transcription	K562	blood
28	chr15:58262000-58262200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:58262400-58262600	Enhancers	Fetal Muscle Leg	muscle
30	chr15:58262600-58287800	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:58262800-58272000	Weak transcription	K562	blood
32	chr15:58264600-58266200	Enhancers	Fetal Lung	lung
33	chr15:58265800-58266200	Enhancers	Fetal Heart	heart
34	chr15:58271600-58272600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:58272000-58272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:58272000-58272600	ZNF genes & repeats	Fetal Stomach	stomach
37	chr15:58272000-58272800	Strong transcription	Fetal Kidney	kidney
38	chr15:58272000-58272800	Strong transcription	K562	blood
39	chr15:58272200-58272400	Bivalent Enhancer	Thymus	Thymus
40	chr15:58272200-58272800	Enhancers	Right Ventricle	heart
41	chr15:58272600-58273000	Weak transcription	Fetal Stomach	stomach
42	chr15:58272600-58284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:58272800-58274200	Weak transcription	K562	blood
44	chr15:58272800-58276600	Weak transcription	Fetal Kidney	kidney
45	chr15:58273400-58274000	Enhancers	Liver	Liver
46	chr15:58274200-58276400	Strong transcription	K562	blood

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