Variant report

Variant	nsv569595
Chromosome Location	chr15:58343146-58353335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:58348211-58348512	K562	blood:	n/a	n/a
2	ARID3A	chr15:58352786-58353110	K562	blood:	n/a	n/a
3	BHLHE40	chr15:58350332-58350550	K562	blood:	n/a	n/a
4	CEBPB	chr15:58344581-58344811	K562	blood:	n/a	n/a
5	CEBPB	chr15:58353109-58353223	K562	blood:	n/a	n/a
6	CTCF	chr15:58348380-58348530	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr15:58348340-58348490	HAc	cerebellar:	n/a	n/a
8	CTCF	chr15:58348320-58348470	AG04449	skin:	n/a	n/a
9	CTCF	chr15:58348360-58348510	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:58348280-58348430	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr15:58348300-58348450	HL-60	blood:	n/a	n/a
12	CTCF	chr15:58348300-58348450	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr15:58348320-58348470	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr15:58348380-58348530	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr15:58348260-58348410	K562	blood:	n/a	n/a
16	CTCF	chr15:58348354-58348438	LNCaP	prostate:	n/a	n/a
17	CTCF	chr15:58348252-58348443	A549	lung:	n/a	n/a
18	CTCF	chr15:58348220-58348370	GM06990	blood:	n/a	n/a
19	CTCF	chr15:58348320-58348470	SAEC	small airway:	n/a	n/a
20	CTCF	chr15:58348225-58348538	K562	blood:	n/a	n/a
21	CTCF	chr15:58348280-58348430	HCFaa	heart:	n/a	n/a
22	CTCF	chr15:58348320-58348470	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr15:58348360-58348510	HRE	kidney:	n/a	n/a
24	CTCF	chr15:58348360-58348510	BJ	skin:	n/a	n/a
25	CTCF	chr15:58348420-58348570	HAc	cerebellar:	n/a	n/a
26	CTCF	chr15:58348280-58348430	NB4	blood:	n/a	n/a
27	CTCF	chr15:58348320-58348470	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr15:58348340-58348490	AG09309	skin:	n/a	n/a
29	CTCF	chr15:58348280-58348430	GM12874	blood:	n/a	n/a
30	CTCF	chr15:58348400-58348550	A549	lung:	n/a	n/a
31	CTCF	chr15:58348320-58348470	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr15:58348300-58348450	HRE	kidney:	n/a	n/a
33	CTCF	chr15:58348340-58348490	HMEC	breast:	n/a	n/a
34	CTCF	chr15:58348240-58348390	GM12868	blood:	n/a	n/a
35	CTCF	chr15:58348380-58348530	GM12869	blood:	n/a	n/a
36	CTCF	chr15:58348320-58348470	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr15:58348360-58348510	NHEK	skin:	n/a	n/a
38	CTCF	chr15:58348280-58348430	HPF	lung:	n/a	n/a
39	CTCF	chr15:58348160-58348310	BE2_C	brain:	n/a	n/a
40	CTCF	chr15:58348320-58348470	HMF	breast:	n/a	n/a
41	CTCF	chr15:58348300-58348450	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr15:58348120-58348270	AG04450	lung:	n/a	n/a
43	CTCF	chr15:58348280-58348430	GM12878	blood:	n/a	n/a
44	CTCF	chr15:58348260-58348410	GM12875	blood:	n/a	n/a
45	CTCF	chr15:58348338-58348437	LNCaP	prostate:	n/a	n/a
46	CTCF	chr15:58348260-58348410	Caco-2	colon:	n/a	n/a
47	CTCF	chr15:58352730-58352768	Lung_OC	lung:	n/a	n/a
48	CTCF	chr15:58348280-58348430	HCT-116	colon:	n/a	n/a
49	CTCF	chr15:58348280-58348430	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:58348260-58348410	A549	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58337253..58339004-chr15:58345727..58347852,2	K562	blood:
2	chr15:58343646..58346573-chr15:58595833..58597683,2	K562	blood:
3	chr15:58339367..58342167-chr15:58342533..58344499,3	K562	blood:
4	chr15:58348390..58350453-chr15:58469668..58473033,3	K562	blood:
5	chr15:58346910..58349954-chr15:58473390..58475572,3	K562	blood:
6	chr15:58336832..58338668-chr15:58341480..58343380,2	K562	blood:
7	chr15:58347698..58349287-chr15:58357341..58359219,2	MCF-7	breast:
8	chr15:58335508..58337087-chr15:58346806..58348400,2	K562	blood:
9	chr15:58351815..58354737-chr15:58471635..58473722,2	K562	blood:
10	chr15:58305846..58308483-chr15:58344667..58346588,2	K562	blood:
11	chr15:58330591..58332432-chr15:58347287..58349860,2	K562	blood:
12	chr15:58158077..58158707-chr15:58348238..58348915,2	MCF-7	breast:

No data

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

Extended variants
information (count: 420 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4646570	chr15:58343146-58343147	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184253271	chr15:58343199-58343200	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535293199	chr15:58343226-58343227	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188671098	chr15:58343246-58343247	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568850281	chr15:58343258-58343259	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537755483	chr15:58343259-58343260	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557985229	chr15:58343280-58343281	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577586044	chr15:58343339-58343340	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540191195	chr15:58343362-58343363	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375866999	chr15:58343392-58343393	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565056762	chr15:58343412-58343413	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527481517	chr15:58343458-58343459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547642004	chr15:58343475-58343476	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115432772	chr15:58343517-58343518	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562276859	chr15:58343536-58343537	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148511557	chr15:58343558-58343559	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201760426	chr15:58343563-58343564	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531083094	chr15:58343565-58343566	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67034026	chr15:58343569-58343570	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145636116	chr15:58343584-58343585	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527848094	chr15:58343588-58343589	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533207198	chr15:58343602-58343603	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77824609	chr15:58343634-58343635	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546948898	chr15:58343652-58343653	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566897242	chr15:58343653-58343654	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536786932	chr15:58343802-58343803	Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529334963	chr15:58343875-58343876	Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549023791	chr15:58343943-58343944	Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116770603	chr15:58343972-58343973	Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148473018	chr15:58343986-58343987	Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181234414	chr15:58344003-58344004	Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35766232	chr15:58344060-58344061	Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184669804	chr15:58344079-58344080	Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368472141	chr15:58344122-58344123	Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142819613	chr15:58344155-58344156	Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533600771	chr15:58344245-58344246	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189184119	chr15:58344253-58344254	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112434104	chr15:58344255-58344256	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4646568	chr15:58344290-58344291	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs180710069	chr15:58344295-58344296	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549316702	chr15:58344308-58344309	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556269282	chr15:58344325-58344326	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568136756	chr15:58344331-58344332	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375762692	chr15:58344332-58344333	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566395769	chr15:58344369-58344370	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575928661	chr15:58344381-58344382	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544777753	chr15:58344397-58344398	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564657410	chr15:58344405-58344406	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534883163	chr15:58344430-58344431	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186482860	chr15:58344471-58344472	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58339800-58343800	Weak transcription	Fetal Kidney	kidney
2	chr15:58341800-58343200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr15:58342000-58344600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr15:58342400-58344400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr15:58342400-58344600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr15:58342600-58344600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr15:58342800-58344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:58343000-58343200	Genic enhancers	K562	blood
9	chr15:58343000-58344000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:58343200-58343800	Weak transcription	K562	blood
11	chr15:58343800-58344200	Strong transcription	K562	blood
12	chr15:58343800-58344400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr15:58343800-58347200	Enhancers	Fetal Kidney	kidney
14	chr15:58344000-58344200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr15:58344200-58344400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr15:58344200-58349000	Weak transcription	K562	blood
17	chr15:58344800-58346600	Enhancers	Fetal Lung	lung
18	chr15:58347200-58350200	Weak transcription	Fetal Kidney	kidney
19	chr15:58349000-58349400	Strong transcription	K562	blood
20	chr15:58349000-58350600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:58349400-58349800	Weak transcription	K562	blood
22	chr15:58349800-58350000	Enhancers	K562	blood
23	chr15:58350000-58351200	Genic enhancers	K562	blood
24	chr15:58350200-58351000	Enhancers	NHEK	skin
25	chr15:58350200-58351200	Enhancers	HMEC	breast
26	chr15:58350200-58352000	Enhancers	Fetal Kidney	kidney
27	chr15:58350400-58350600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr15:58350400-58350600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:58351000-58351200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr15:58351000-58351200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:58351200-58352600	Enhancers	K562	blood
32	chr15:58352000-58353000	Weak transcription	Fetal Kidney	kidney
33	chr15:58352600-58353200	Genic enhancers	K562	blood
34	chr15:58353000-58353400	Flanking Active TSS	Fetal Kidney	kidney
35	chr15:58353200-58353400	Flanking Active TSS	K562	blood

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