Variant report

Variant	nsv904258
Chromosome Location	chr15:58255305-58281035
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	chr15:58263324-58263963	K562	blood:	n/a	n/a
2	BCL3	chr15:58271936-58273098	K562	blood:	n/a	chr15:58272172-58272180
3	CCNT2	chr15:58272357-58272780	K562	blood:	n/a	n/a
4	CEBPB	chr15:58261686-58261938	A549	lung:	n/a	n/a
5	CHD2	chr15:58272408-58272625	K562	blood:	n/a	n/a
6	CHD2	chr15:58271663-58271760	K562	blood:	n/a	n/a
7	CTCF	chr15:58261678-58261817	H1-hESC	embryonic stem cell:	n/a	chr15:58261738-58261756
8	CTCF	chr15:58261660-58261810	NHDF-neo	bronchial:	n/a	chr15:58261738-58261756
9	CTCF	chr15:58261700-58261850	HMF	breast:	n/a	chr15:58261738-58261756
10	CTCF	chr15:58261640-58261790	Hela-S3	cervix:	n/a	chr15:58261738-58261756
11	CTCF	chr15:58261620-58261770	HPF	lung:	n/a	chr15:58261738-58261756
12	CTCF	chr15:58261640-58261790	MCF-7	breast:	n/a	chr15:58261738-58261756
13	CTCF	chr15:58261674-58261822	LNCaP	prostate:	n/a	chr15:58261738-58261756
14	CTCF	chr15:58261660-58261810	HBMEC	blood vessel:	n/a	chr15:58261738-58261756
15	CTCF	chr15:58261681-58261811	MCF-7	breast:	n/a	chr15:58261738-58261756
16	CTCF	chr15:58261666-58261815	A549	lung:	n/a	chr15:58261738-58261756
17	CTCF	chr15:58261718-58261781	GM12892	blood:	n/a	chr15:58261738-58261756
18	CTCF	chr15:58261620-58261770	HVMF	connective:	n/a	chr15:58261738-58261756
19	CTCF	chr15:58261700-58261850	SAEC	small airway:	n/a	chr15:58261738-58261756
20	CTCF	chr15:58261701-58261750	Lung_OC	lung:	n/a	n/a
21	CTCF	chr15:58261675-58261787	SK-N-SH_RA	brain:	n/a	chr15:58261738-58261756
22	CTCF	chr15:58261682-58261818	MCF-7	breast:	n/a	chr15:58261738-58261756
23	CTCF	chr15:58261660-58261810	HRPEpiC	eye:	n/a	chr15:58261738-58261756
24	CTCF	chr15:58269466-58269505	GM20000	blood:	n/a	n/a
25	CTCF	chr15:58261660-58261810	HMEC	breast:	n/a	chr15:58261738-58261756
26	CTCF	chr15:58261680-58261830	WERI-Rb-1	eye:	n/a	chr15:58261738-58261756
27	CTCF	chr15:58261636-58261855	MCF-7	breast:	n/a	chr15:58261738-58261756
28	CTCF	chr15:58261700-58261850	HEEpiC	esophagus:	n/a	chr15:58261738-58261756
29	CTCF	chr15:58261667-58261810	ProgFib	skin:	n/a	chr15:58261738-58261756
30	CTCF	chr15:58261640-58261790	HA-sp	spinal cord:	n/a	chr15:58261738-58261756
31	CTCF	chr15:58261680-58261830	SAEC	small airway:	n/a	chr15:58261738-58261756
32	CTCF	chr15:58261660-58261810	HPF	lung:	n/a	chr15:58261738-58261756
33	CTCF	chr15:58261640-58261790	HCM	heart:	n/a	chr15:58261738-58261756
34	CTCF	chr15:58261700-58261850	GM06990	blood:	n/a	chr15:58261738-58261756
35	CTCF	chr15:58261652-58261843	NHEK	skin:	n/a	chr15:58261738-58261756
36	CTCF	chr15:58261659-58261834	MCF-7	breast:	n/a	chr15:58261738-58261756
37	CTCF	chr15:58261720-58261870	HPAF	blood vessel:	n/a	chr15:58261738-58261756
38	CTCF	chr15:58271071-58271153	GM13976	blood:	n/a	n/a
39	CTCF	chr15:58261639-58261839	HepG2	liver:	n/a	chr15:58261738-58261756
40	CTCF	chr15:58261580-58261730	GM06990	blood:	n/a	n/a
41	CTCF	chr15:58261700-58261850	BJ	skin:	n/a	chr15:58261738-58261756
42	CTCF	chr15:58262040-58262190	BE2_C	brain:	n/a	n/a
43	CTCF	chr15:58261623-58261856	K562	blood:	n/a	chr15:58261738-58261756
44	CTCF	chr15:58261716-58261795	GM19240	blood:	n/a	chr15:58261738-58261756
45	CTCF	chr15:58261540-58261690	A549	lung:	n/a	n/a
46	CTCF	chr15:58261714-58261790	GM12891	blood:	n/a	chr15:58261738-58261756
47	CTCF	chr15:58261678-58261805	GM19238	blood:	n/a	chr15:58261738-58261756
48	CTCF	chr15:58261630-58261873	A549	lung:	n/a	chr15:58261738-58261756
49	CTCF	chr15:58261680-58261830	K562	blood:	n/a	chr15:58261738-58261756
50	CTCF	chr15:58261700-58261850	AG09319	gingival:	n/a	chr15:58261738-58261756

No.	Distal block	Cell Line	Cell type
1	chr15:58260270..58262441-chr15:58476385..58479078,2	K562	blood:
2	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
3	chr15:58261650..58262263-chr15:58358090..58358808,2	MCF-7	breast:
4	chr15:58261336..58261843-chr15:58474684..58475338,2	K562	blood:
5	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
6	chr15:58273699..58275386-chr15:58275483..58277052,2	K562	blood:
7	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
8	chr15:58261244..58261767-chr15:58513997..58514512,2	K562	blood:
9	chr15:58244658..58246285-chr15:58253833..58255895,2	K562	blood:
10	chr15:58256067..58257569-chr15:58262766..58264756,2	K562	blood:
11	chr15:58260850..58262862-chr15:58265221..58267653,3	K562	blood:
12	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
13	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
14	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
15	chr15:58205888..58208122-chr15:58265486..58268281,2	K562	blood:
16	chr15:58277713..58279436-chr15:58288299..58290466,2	K562	blood:
17	chr15:58275181..58277335-chr15:58278541..58280252,2	K562	blood:
18	chr15:58260254..58263226-chr15:58263672..58265753,2	MCF-7	breast:
19	chr15:58261234..58263951-chr15:58334442..58336096,2	K562	blood:
20	chr15:58247243..58251285-chr15:58252651..58255345,4	K562	blood:
21	chr15:58251581..58253908-chr15:58262136..58263877,2	K562	blood:
22	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:
23	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
24	chr15:58261520..58262217-chr15:58362720..58363602,3	MCF-7	breast:
25	chr15:58252821..58255507-chr15:58265030..58267708,2	K562	blood:
26	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:
27	chr15:58275181..58277335-chr15:58278541..58280252,2	K562	blood:
28	chr15:58260833..58263956-chr15:58356414..58359716,3	K562	blood:
29	chr15:58275785..58279508-chr15:58279537..58282628,3	MCF-7	breast:
30	chr15:58247243..58249789-chr15:58253474..58255345,2	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: 1195 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4646627	chr15:58255305-58255306	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376139923	chr15:58255320-58255321	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147741546	chr15:58255341-58255342	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550325251	chr15:58255366-58255367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191151296	chr15:58255367-58255368	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533009193	chr15:58255374-58255375	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370864803	chr15:58255431-58255432	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566334899	chr15:58255457-58255458	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141170462	chr15:58255505-58255506	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548781607	chr15:58255511-58255512	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183321314	chr15:58255528-58255529	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552870958	chr15:58255545-58255546	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72370187	chr15:58255546-58255547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67005556	chr15:58255556-58255557	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542054712	chr15:58255557-58255558	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76597106	chr15:58255560-58255561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80124746	chr15:58255561-58255562	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553990531	chr15:58255566-58255567	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79266663	chr15:58255582-58255583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546750223	chr15:58255583-58255584	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540130269	chr15:58255610-58255611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138016939	chr15:58255630-58255631	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35589936	chr15:58255631-58255632	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186259543	chr15:58255632-58255633	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113274898	chr15:58255682-58255683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575650834	chr15:58255686-58255687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544002556	chr15:58255687-58255688	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575866683	chr15:58255690-58255691	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545450952	chr15:58255695-58255696	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533097651	chr15:58255698-58255699	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546474003	chr15:58255699-58255700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563211480	chr15:58255705-58255706	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560120566	chr15:58255710-58255711	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1812889	chr15:58255732-58255733	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191843519	chr15:58255773-58255774	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35268022	chr15:58255787-58255788	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2578656	chr15:58255800-58255801	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551238857	chr15:58255820-58255821	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571044775	chr15:58255821-58255822	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148238767	chr15:58255837-58255838	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553414322	chr15:58255838-58255839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183246029	chr15:58255865-58255866	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535489377	chr15:58255870-58255871	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188311537	chr15:58255873-58255874	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575378111	chr15:58255876-58255877	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192571469	chr15:58255905-58255906	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557565291	chr15:58255913-58255914	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577393773	chr15:58255914-58255915	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35204199	chr15:58255939-58255940	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560197960	chr15:58255951-58255952	Enhancers Weak transcription Strong transcription	n/a	n/a	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:58 , 50 per page) page: 1 2

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	chr15:58254200-58255400	Enhancers	Fetal Lung	lung
7	chr15:58254200-58255600	Enhancers	HMEC	breast
8	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
9	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
10	chr15:58255000-58255600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:58255000-58256400	Enhancers	NHEK	skin
12	chr15:58255000-58256600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:58255200-58255400	Enhancers	Placenta	Placenta
14	chr15:58255200-58255600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:58255200-58256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:58255400-58258200	Weak transcription	Fetal Lung	lung
17	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
18	chr15:58256400-58258000	Strong transcription	Fetal Kidney	kidney
19	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
20	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
21	chr15:58258200-58259000	Enhancers	Fetal Lung	lung
22	chr15:58258600-58259000	Enhancers	Placenta	Placenta
23	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
24	chr15:58259200-58261200	Weak transcription	K562	blood
25	chr15:58260000-58260200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:58260000-58260200	Enhancers	Left Ventricle	heart
27	chr15:58260000-58260200	Enhancers	Right Atrium	heart
28	chr15:58260000-58260400	Enhancers	Fetal Kidney	kidney
29	chr15:58260000-58260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:58260200-58260400	Weak transcription	Right Atrium	heart
31	chr15:58260400-58272000	Weak transcription	Fetal Kidney	kidney
32	chr15:58261200-58262800	Strong transcription	K562	blood
33	chr15:58262000-58262200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:58262400-58262600	Enhancers	Fetal Muscle Leg	muscle
35	chr15:58262600-58287800	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:58262800-58272000	Weak transcription	K562	blood
37	chr15:58264600-58266200	Enhancers	Fetal Lung	lung
38	chr15:58265800-58266200	Enhancers	Fetal Heart	heart
39	chr15:58271600-58272600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:58272000-58272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:58272000-58272600	ZNF genes & repeats	Fetal Stomach	stomach
42	chr15:58272000-58272800	Strong transcription	Fetal Kidney	kidney
43	chr15:58272000-58272800	Strong transcription	K562	blood
44	chr15:58272200-58272400	Bivalent Enhancer	Thymus	Thymus
45	chr15:58272200-58272800	Enhancers	Right Ventricle	heart
46	chr15:58272600-58273000	Weak transcription	Fetal Stomach	stomach
47	chr15:58272600-58284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:58272800-58274200	Weak transcription	K562	blood
49	chr15:58272800-58276600	Weak transcription	Fetal Kidney	kidney
50	chr15:58273400-58274000	Enhancers	Liver	Liver

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