Variant report

Variant	nsv977713
Chromosome Location	chr15:45611707-45620772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:45612852-45613014	GM12878	blood:	n/a	chr15:45612936-45612947
2	CBX3	chr15:45612733-45613303	HCT-116	colon:	n/a	n/a
3	CEBPB	chr15:45618743-45619217	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr15:45611546-45612092	T-47D	breast:	n/a	n/a
5	EP300	chr15:45612893-45613002	GM12878	blood:	n/a	n/a
6	EP300	chr15:45612749-45613215	T-47D	breast:	n/a	n/a
7	FOS	chr15:45612800-45613116	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr15:45612862-45613118	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:45612818-45613104	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:45612745-45613100	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr15:45612685-45613264	HCT-116	colon:	n/a	n/a
12	FOSL1	chr15:45612790-45613220	HCT-116	colon:	n/a	n/a
13	FOSL2	chr15:45612714-45613076	HepG2	liver:	n/a	chr15:45612933-45612944
14	FOSL2	chr15:45612706-45613165	MCF-7	breast:	n/a	chr15:45612933-45612944
15	FOSL2	chr15:45612748-45613077	MCF-7	breast:	n/a	chr15:45612933-45612944
16	FOSL2	chr15:45612709-45613235	HepG2	liver:	n/a	chr15:45612933-45612944
17	FOXA1	chr15:45611707-45612103	T-47D	breast:	n/a	n/a
18	FOXA1	chr15:45612842-45613122	T-47D	breast:	n/a	n/a
19	FOXA1	chr15:45611672-45612026	T-47D	breast:	n/a	n/a
20	FOXA1	chr15:45612804-45613161	T-47D	breast:	n/a	n/a
21	GATA3	chr15:45612747-45613219	MCF-7	breast:	n/a	n/a
22	GATA3	chr15:45612762-45613240	T-47D	breast:	n/a	n/a
23	GATA3	chr15:45611568-45612078	T-47D	breast:	n/a	chr15:45611631-45611641
24	GATA3	chr15:45612603-45613273	MCF-7	breast:	n/a	n/a
25	GATA3	chr15:45620702-45621298	T-47D	breast:	n/a	chr15:45620850-45620871 chr15:45620857-45620864
26	GATA3	chr15:45620657-45621035	SH-SY5Y	brain:	n/a	chr15:45620850-45620871 chr15:45620857-45620864
27	GATA3	chr15:45611454-45612005	T-47D	breast:	n/a	chr15:45611531-45611543 chr15:45611631-45611641
28	GATA3	chr15:45612743-45613354	T-47D	breast:	n/a	n/a
29	JUND	chr15:45612818-45613025	HepG2	liver:	n/a	chr15:45612934-45612945
30	JUND	chr15:45612695-45613265	T-47D	breast:	n/a	chr15:45612934-45612945
31	JUND	chr15:45612667-45613265	HCT-116	colon:	n/a	chr15:45612934-45612945
32	JUND	chr15:45612785-45613120	HepG2	liver:	n/a	chr15:45612934-45612945
33	JUND	chr15:45612733-45613273	T-47D	breast:	n/a	chr15:45612934-45612945
34	JUND	chr15:45612675-45613309	HCT-116	colon:	n/a	chr15:45612934-45612945
35	MAFK	chr15:45613077-45613186	HepG2	liver:	n/a	n/a
36	MAX	chr15:45618660-45618983	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr15:45614292-45614370	GM12878	blood:	n/a	n/a
38	MYC	chr15:45619161-45619356	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:45616564-45616715	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:45618434-45618564	GM12878	blood:	n/a	n/a
41	POU5F1	chr15:45618426-45618765	H1-hESC	embryonic stem cell:	n/a	n/a
42	SMC3	chr15:45612814-45612827	HepG2	liver:	n/a	n/a
43	SP1	chr15:45612856-45613289	HCT-116	colon:	n/a	n/a
44	SP1	chr15:45618577-45618926	H1-hESC	embryonic stem cell:	n/a	n/a
45	STAT3	chr15:45619555-45619586	MCF10A-Er-Src	breast:	n/a	n/a
46	USF1	chr15:45618531-45618854	H1-hESC	embryonic stem cell:	n/a	n/a
47	USF1	chr15:45618524-45618790	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF217	chr15:45612797-45613163	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45614704-45614754	AG10803	skin:	n/a
2	chr15:45614704-45614754	ECC-1	luminal epithelium:	n/a
3	chr15:45614704-45614754	BJ	skin:	n/a
4	chr15:45614704-45614754	SKMC	muscle:	n/a
5	chr15:45614704-45614754	Caco-2	colon:	n/a
6	chr15:45614704-45614754	HIPEpiC	eye:	n/a
7	chr15:45614704-45614754	PFSK-1	brain:	n/a
8	chr15:45614704-45614754	BE2_C	brain:	n/a
9	chr15:45614704-45614754	PANC-1	pancreas:	n/a
10	chr15:45614704-45614754	T-47D	breast:	n/a
11	chr15:45614704-45614754	ovcar-3	ovarian:	n/a
12	chr15:45614704-45614754	CMK	blood:	n/a
13	chr15:45614704-45614754	PrEC	prostate:	n/a
14	chr15:45614704-45614754	AG09309	skin:	n/a
15	chr15:45614704-45614754	NB4	blood:	n/a
16	chr15:45614704-45614754	HCF	heart:	n/a
17	chr15:45614704-45614754	K562	blood:	n/a
18	chr15:45614704-45614754	H1-hESC	embryonic stem cell:	embryo
19	chr15:45614704-45614754	IMR90	lung:	fetal
20	chr15:45614704-45614754	GM06990	blood:	n/a
21	chr15:45614704-45614754	HAEpiC	amniotic membrane:	n/a
22	chr15:45614704-45614754	SK-N-SH	brain:	n/a
23	chr15:45614704-45614754	HUVEC	blood vessel:	n/a
24	chr15:45614704-45614754	HEEpiC	esophagus:	n/a
25	chr15:45614704-45614754	ProgFib	skin:	n/a
26	chr15:45614704-45614754	Jurkat	blood:	n/a
27	chr15:45614704-45614754	AG09319	gingival:	n/a
28	chr15:45614704-45614754	NT2-D1	testis:	n/a
29	chr15:45614704-45614754	HCM	heart:	n/a
30	chr15:45614704-45614754	A549	lung:	n/a
31	chr15:45614704-45614754	SK-N-SH_RA	brain:	n/a
32	chr15:45614704-45614754	HRCEpiC	kidney:	n/a
33	chr15:45614704-45614754	HMEC	breast:	n/a
34	chr15:45614704-45614754	GM12891	blood:	n/a
35	chr15:45614704-45614754	GM12878	blood:	n/a
36	chr15:45614704-45614754	HCT-116	colon:	n/a
37	chr15:45614704-45614754	HEK293	kidney:	embryo
38	chr15:45614704-45614754	RPTEC	kidney:	n/a
39	chr15:45614704-45614754	HCPEpiC	choroid plexus:	n/a
40	chr15:45614704-45614754	Hela-S3	cervix:	n/a
41	chr15:45614704-45614754	AoSMC	blood vessel:	n/a
42	chr15:45614704-45614754	SK-N-MC	brain:	n/a
43	chr15:45614704-45614754	NH-A	brain:	n/a
44	chr15:45614704-45614754	GM19239	blood:	n/a
45	chr15:45614704-45614754	MCF10A-Er-Src	breast:	n/a
46	chr15:45614704-45614754	HRE	kidney:	n/a
47	chr15:45614704-45614754	LNCaP	prostate:	n/a
48	chr15:45614704-45614754	Hepatocyte	liver:	n/a
49	chr15:45614704-45614754	GM12892	blood:	n/a
50	chr15:45614704-45614754	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45618068..45621041-chr15:45630551..45632490,2	MCF-7	breast:
2	chr15:45620581..45623525-chr15:45624278..45626094,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GATM-3	chr15:45613275-45613890	NONHSAT042234
2	lnc-GATM-3	chr15:45613312-45613584	NONHSAT140237

No data

Variant related genes	Relation type
ENSG00000235390	TF binding region
ENSG00000235390	CpG island
ENSG00000259433	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561616107	chr15:45611732-45611733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530296704	chr15:45611762-45611763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566739576	chr15:45611786-45611787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191174668	chr15:45611797-45611798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79927748	chr15:45611814-45611815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534529061	chr15:45611851-45611852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79201669	chr15:45611856-45611857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182510463	chr15:45611867-45611868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201886825	chr15:45611892-45611893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531652210	chr15:45611949-45611950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144033262	chr15:45611966-45611967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150688151	chr15:45612027-45612028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199858779	chr15:45612041-45612042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398078151	chr15:45612048-45612049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533707578	chr15:45612051-45612052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115111692	chr15:45612060-45612061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537436525	chr15:45612100-45612101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539532083	chr15:45612143-45612144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556027058	chr15:45612151-45612152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556173389	chr15:45612156-45612157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575987332	chr15:45612177-45612178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535134134	chr15:45612231-45612232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577839909	chr15:45612343-45612344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555287680	chr15:45612425-45612426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138957762	chr15:45612456-45612457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185741318	chr15:45612521-45612522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560676550	chr15:45612556-45612557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190895951	chr15:45612566-45612567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577404455	chr15:45612575-45612576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540478972	chr15:45612582-45612583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74542591	chr15:45612618-45612619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377586733	chr15:45612621-45612622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149342167	chr15:45612683-45612684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189713600	chr15:45612768-45612769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369611213	chr15:45612824-45612825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144685157	chr15:45612844-45612845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577597155	chr15:45612857-45612858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78053884	chr15:45612868-45612869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561623474	chr15:45612981-45612982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527586554	chr15:45612996-45612997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547151307	chr15:45613024-45613025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570303734	chr15:45613099-45613100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139574574	chr15:45613150-45613151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549828083	chr15:45613262-45613263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182380609	chr15:45613310-45613311	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535401506	chr15:45613355-45613356	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs74009623	chr15:45613414-45613415	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572290615	chr15:45613447-45613448	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs575145652	chr15:45613448-45613449	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144292538	chr15:45613455-45613456	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45611600-45612000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr15:45611600-45613000	Enhancers	Stomach Mucosa	stomach
3	chr15:45611600-45613600	Enhancers	Pancreas	Pancrea
4	chr15:45611600-45613600	Enhancers	HepG2	liver
5	chr15:45611800-45612000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:45612000-45615600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:45612200-45612400	Enhancers	Gastric	stomach
8	chr15:45612400-45615600	Weak transcription	Gastric	stomach
9	chr15:45612600-45612800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:45613000-45613200	Enhancers	Fetal Brain Female	brain
11	chr15:45613000-45615600	Weak transcription	Stomach Mucosa	stomach
12	chr15:45613400-45613800	Enhancers	Fetal Brain Male	brain
13	chr15:45613400-45614000	Weak transcription	Fetal Brain Female	brain
14	chr15:45613600-45622000	Weak transcription	Pancreas	Pancrea
15	chr15:45613800-45618200	Weak transcription	Fetal Brain Male	brain
16	chr15:45614000-45614200	Enhancers	Fetal Brain Female	brain
17	chr15:45614200-45616000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr15:45614200-45619000	Weak transcription	Fetal Brain Female	brain
19	chr15:45615400-45616200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:45615600-45616000	Enhancers	Gastric	stomach
21	chr15:45615600-45616200	Enhancers	Fetal Intestine Large	intestine
22	chr15:45615600-45616200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:45615600-45616200	Enhancers	Stomach Mucosa	stomach
24	chr15:45615800-45616200	Enhancers	Fetal Intestine Small	intestine
25	chr15:45616000-45617200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:45616000-45624800	Weak transcription	Gastric	stomach
27	chr15:45616200-45617800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:45616200-45618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:45616200-45625000	Weak transcription	Fetal Intestine Large	intestine
30	chr15:45616200-45625600	Weak transcription	Fetal Intestine Small	intestine
31	chr15:45617200-45618800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:45617200-45621200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr15:45617600-45618800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr15:45617800-45618000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr15:45617800-45618200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:45617800-45621600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:45618000-45618600	Enhancers	Brain Hippocampus Middle	brain
38	chr15:45618000-45618800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:45618000-45619000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:45618000-45619400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr15:45618200-45619600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr15:45618200-45619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:45618200-45619600	Enhancers	Fetal Brain Male	brain
44	chr15:45618400-45618600	Enhancers	Brain Anterior Caudate	brain
45	chr15:45618400-45618600	Enhancers	Brain Cingulate Gyrus	brain
46	chr15:45618400-45619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr15:45618600-45618800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr15:45618600-45618800	Enhancers	Brain Angular Gyrus	brain
49	chr15:45618600-45618800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr15:45618600-45618800	Enhancers	Brain Substantia Nigra	brain

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