Variant report

Variant	nsv904257
Chromosome Location	chr15:58253894-58281035
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	chr15:58261674-58261822	LNCaP	prostate:	n/a	chr15:58261738-58261756
8	CTCF	chr15:58261620-58261770	HVMF	connective:	n/a	chr15:58261738-58261756
9	CTCF	chr15:58261686-58261822	MCF-7	breast:	n/a	chr15:58261738-58261756
10	CTCF	chr15:58261640-58261790	AG04450	lung:	n/a	chr15:58261738-58261756
11	CTCF	chr15:58261640-58261790	NHDF-neo	bronchial:	n/a	chr15:58261738-58261756
12	CTCF	chr15:58261660-58261810	HBMEC	blood vessel:	n/a	chr15:58261738-58261756
13	CTCF	chr15:58261700-58261850	NHEK	skin:	n/a	chr15:58261738-58261756
14	CTCF	chr15:58261697-58261797	Gliobla	brain:	n/a	chr15:58261738-58261756
15	CTCF	chr15:58261714-58261790	GM12891	blood:	n/a	chr15:58261738-58261756
16	CTCF	chr15:58261716-58261795	GM19240	blood:	n/a	chr15:58261738-58261756
17	CTCF	chr15:58261681-58261811	MCF-7	breast:	n/a	chr15:58261738-58261756
18	CTCF	chr15:58254166-58254360	T-47D	breast:	n/a	n/a
19	CTCF	chr15:58261680-58261830	AG04449	skin:	n/a	chr15:58261738-58261756
20	CTCF	chr15:58261696-58261775	LNCaP	prostate:	n/a	chr15:58261738-58261756
21	CTCF	chr15:58261622-58261905	MCF-7	breast:	n/a	chr15:58261738-58261756
22	CTCF	chr15:58261614-58261864	H1-hESC	embryonic stem cell:	n/a	chr15:58261738-58261756
23	CTCF	chr15:58261640-58261853	HUVEC	blood vessel:	n/a	chr15:58261738-58261756
24	CTCF	chr15:58261666-58261811	Medullo	brain:	n/a	chr15:58261738-58261756
25	CTCF	chr15:58261660-58261810	NHDF-neo	bronchial:	n/a	chr15:58261738-58261756
26	CTCF	chr15:58261680-58261830	MCF-7	breast:	n/a	chr15:58261738-58261756
27	CTCF	chr15:58262040-58262190	BE2_C	brain:	n/a	n/a
28	CTCF	chr15:58261540-58261690	A549	lung:	n/a	n/a
29	CTCF	chr15:58261740-58262030	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr15:58261660-58261810	HPF	lung:	n/a	chr15:58261738-58261756
31	CTCF	chr15:58261640-58261790	HMF	breast:	n/a	chr15:58261738-58261756
32	CTCF	chr15:58261645-58261842	K562	blood:	n/a	chr15:58261738-58261756
33	CTCF	chr15:58261640-58261790	Hela-S3	cervix:	n/a	chr15:58261738-58261756
34	CTCF	chr15:58261720-58261870	HFF	foreskin:	n/a	chr15:58261738-58261756
35	CTCF	chr15:58261639-58261858	HepG2	liver:	n/a	chr15:58261738-58261756
36	CTCF	chr15:58261620-58261770	A549	lung:	n/a	chr15:58261738-58261756
37	CTCF	chr15:58261620-58261770	AG09309	skin:	n/a	chr15:58261738-58261756
38	CTCF	chr15:58261678-58261805	GM19238	blood:	n/a	chr15:58261738-58261756
39	CTCF	chr15:58261700-58261850	SAEC	small airway:	n/a	chr15:58261738-58261756
40	CTCF	chr15:58261580-58261730	GM06990	blood:	n/a	n/a
41	CTCF	chr15:58261580-58261730	GM12872	blood:	n/a	n/a
42	CTCF	chr15:58261630-58261873	A549	lung:	n/a	chr15:58261738-58261756
43	CTCF	chr15:58261667-58261810	ProgFib	skin:	n/a	chr15:58261738-58261756
44	CTCF	chr15:58261640-58261790	AG04449	skin:	n/a	chr15:58261738-58261756
45	CTCF	chr15:58261640-58261790	MCF-7	breast:	n/a	chr15:58261738-58261756
46	CTCF	chr15:58261620-58261770	SK-N-SH_RA	brain:	n/a	chr15:58261738-58261756
47	CTCF	chr15:58261660-58261810	HPAF	blood vessel:	n/a	chr15:58261738-58261756
48	CTCF	chr15:58261660-58261810	HMEC	breast:	n/a	chr15:58261738-58261756
49	CTCF	chr15:58261660-58261810	HepG2	liver:	n/a	chr15:58261738-58261756
50	CTCF	chr15:58261660-58261810	HFF-Myc	foreskin:	n/a	chr15:58261738-58261756

No.	Distal block	Cell Line	Cell type
1	chr15:58260833..58263956-chr15:58356414..58359716,3	K562	blood:
2	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:
3	chr15:58251581..58253908-chr15:58262136..58263877,2	K562	blood:
4	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
5	chr15:58277713..58279436-chr15:58288299..58290466,2	K562	blood:
6	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
7	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
8	chr15:58247243..58249789-chr15:58253474..58255345,2	K562	blood:
9	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
10	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
11	chr15:58205888..58208122-chr15:58265486..58268281,2	K562	blood:
12	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
13	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:
14	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
15	chr15:58275181..58277335-chr15:58278541..58280252,2	K562	blood:
16	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
17	chr15:58244658..58246285-chr15:58253833..58255895,2	K562	blood:
18	chr15:58261650..58262263-chr15:58358090..58358808,2	MCF-7	breast:
19	chr15:58260270..58262441-chr15:58476385..58479078,2	K562	blood:
20	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
21	chr15:58261336..58261843-chr15:58474684..58475338,2	K562	blood:
22	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
23	chr15:58251581..58253908-chr15:58262136..58263877,2	K562	blood:
24	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:
25	chr15:58256067..58257569-chr15:58262766..58264756,2	K562	blood:
26	chr15:58261244..58261767-chr15:58513997..58514512,2	K562	blood:
27	chr15:58247243..58251285-chr15:58252651..58255345,4	K562	blood:
28	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
29	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
30	chr15:58275181..58277335-chr15:58278541..58280252,2	K562	blood:
31	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: 1269 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4646631	chr15:58253894-58253895	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541236194	chr15:58253914-58253915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4646630	chr15:58253981-58253982	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs55909908	chr15:58253988-58253989	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144193097	chr15:58254034-58254035	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373828906	chr15:58254086-58254087	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560817974	chr15:58254164-58254165	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35153668	chr15:58254178-58254179	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372728705	chr15:58254198-58254199	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200804968	chr15:58254226-58254227	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563668428	chr15:58254227-58254228	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376756068	chr15:58254240-58254241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148916340	chr15:58254243-58254244	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143821863	chr15:58254244-58254245	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112459377	chr15:58254259-58254260	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200868240	chr15:58254260-58254261	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369720079	chr15:58254267-58254268	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376965202	chr15:58254280-58254281	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148157033	chr15:58254299-58254300	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141958697	chr15:58254324-58254325	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566152453	chr15:58254345-58254346	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201163351	chr15:58254410-58254411	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181430780	chr15:58254413-58254414	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372564923	chr15:58254423-58254424	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553357457	chr15:58254482-58254483	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568349691	chr15:58254493-58254494	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536945713	chr15:58254504-58254505	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556960584	chr15:58254532-58254533	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140074385	chr15:58254548-58254549	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551612167	chr15:58254555-58254556	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35643741	chr15:58254593-58254594	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552669635	chr15:58254652-58254653	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565266964	chr15:58254683-58254684	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572566445	chr15:58254706-58254707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541619657	chr15:58254707-58254708	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142404491	chr15:58254731-58254732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2119859	chr15:58254745-58254746	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543748293	chr15:58254750-58254751	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563706815	chr15:58254758-58254759	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548041415	chr15:58254765-58254766	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574516481	chr15:58254770-58254771	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186530723	chr15:58254776-58254777	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539961776	chr15:58254779-58254780	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34187196	chr15:58254786-58254787	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189383921	chr15:58254868-58254869	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545423690	chr15:58254902-58254903	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368368795	chr15:58254903-58254904	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528529932	chr15:58254907-58254908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180972105	chr15:58254940-58254941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575080181	chr15:58254961-58254962	Weak transcription Enhancers Strong transcription	Chromatin interactive 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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58247400-58254000	Strong transcription	Fetal Kidney	kidney
2	chr15:58248800-58262400	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:58249000-58259200	Strong transcription	K562	blood
4	chr15:58249600-58254200	Weak transcription	HMEC	breast
5	chr15:58249800-58255000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:58251000-58255200	Weak transcription	Placenta	Placenta
7	chr15:58252800-58255000	Weak transcription	NHEK	skin
8	chr15:58253600-58254200	Weak transcription	Fetal Lung	lung
9	chr15:58253600-58254400	Enhancers	Left Ventricle	heart
10	chr15:58253600-58254800	Enhancers	Fetal Heart	heart
11	chr15:58253800-58254400	Enhancers	Right Atrium	heart
12	chr15:58253800-58271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:58253800-58284800	Weak transcription	Ovary	ovary
14	chr15:58254000-58256400	Weak transcription	Fetal Kidney	kidney
15	chr15:58254200-58255400	Enhancers	Fetal Lung	lung
16	chr15:58254200-58255600	Enhancers	HMEC	breast
17	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
18	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
19	chr15:58255000-58255600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:58255000-58256400	Enhancers	NHEK	skin
21	chr15:58255000-58256600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:58255200-58255400	Enhancers	Placenta	Placenta
23	chr15:58255200-58255600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:58255200-58256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:58255400-58258200	Weak transcription	Fetal Lung	lung
26	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
27	chr15:58256400-58258000	Strong transcription	Fetal Kidney	kidney
28	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
29	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
30	chr15:58258200-58259000	Enhancers	Fetal Lung	lung
31	chr15:58258600-58259000	Enhancers	Placenta	Placenta
32	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
33	chr15:58259200-58261200	Weak transcription	K562	blood
34	chr15:58260000-58260200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:58260000-58260200	Enhancers	Left Ventricle	heart
36	chr15:58260000-58260200	Enhancers	Right Atrium	heart
37	chr15:58260000-58260400	Enhancers	Fetal Kidney	kidney
38	chr15:58260000-58260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:58260200-58260400	Weak transcription	Right Atrium	heart
40	chr15:58260400-58272000	Weak transcription	Fetal Kidney	kidney
41	chr15:58261200-58262800	Strong transcription	K562	blood
42	chr15:58262000-58262200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:58262400-58262600	Enhancers	Fetal Muscle Leg	muscle
44	chr15:58262600-58287800	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:58262800-58272000	Weak transcription	K562	blood
46	chr15:58264600-58266200	Enhancers	Fetal Lung	lung
47	chr15:58265800-58266200	Enhancers	Fetal Heart	heart
48	chr15:58271600-58272600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:58272000-58272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:58272000-58272600	ZNF genes & repeats	Fetal Stomach	stomach

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