Variant report

Variant	nsv457154
Chromosome Location	chr15:54892583-54904782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:54902511-54902544	GM20000	blood:	n/a	n/a
2	CTCF	chr15:54898985-54899060	Lung_OC	lung:	n/a	n/a
3	EBF1	chr15:54897241-54897449	GM12878	blood:	n/a	chr15:54897370-54897381 chr15:54897371-54897380
4	FOXA1	chr15:54897809-54898103	T-47D	breast:	n/a	n/a
5	GATA3	chr15:54900401-54900711	T-47D	breast:	n/a	n/a
6	GATA3	chr15:54897773-54898103	T-47D	breast:	n/a	chr15:54897906-54897915 chr15:54897909-54897918
7	MAFK	chr15:54902064-54902250	HepG2	liver:	n/a	n/a
8	MAX	chr15:54897351-54897366	GM12878	blood:	n/a	n/a
9	MXI1	chr15:54896958-54896990	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:54893304-54893558	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:54892883-54893031	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr15:54896829-54897128	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr15:54901205-54901906	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr15:54900039-54900212	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr15:54893990-54894530	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:54898844-54898972	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:54896857-54897178	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr15:54896939-54898132	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:54901211-54901881	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr15:54894073-54894121	GM12878	blood:	n/a	n/a
21	RAD21	chr15:54897201-54897478	H1-hESC	embryonic stem cell:	n/a	chr15:54897373-54897383
22	REST	chr15:54901024-54902033	H1-neurons	neurons:	n/a	n/a
23	STAT3	chr15:54903189-54903412	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr15:54897564-54898006	MCF10A-Er-Src	breast:	n/a	n/a
25	USF2	chr15:54894118-54894203	GM12878	blood:	n/a	n/a
26	WRNIP1	chr15:54894877-54895325	GM12878	blood:	n/a	n/a
27	WRNIP1	chr15:54897945-54898097	GM12878	blood:	n/a	n/a
28	WRNIP1	chr15:54897174-54897544	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:54897418-54897468	HL-60	blood:	n/a
2	chr15:54897418-54897468	NHDF-neo	bronchial:	n/a
3	chr15:54897418-54897468	PrEC	prostate:	n/a
4	chr15:54897418-54897468	NHBE	bronchial:	n/a
5	chr15:54897418-54897468	CMK	blood:	n/a
6	chr15:54897418-54897468	AoSMC	blood vessel:	n/a
7	chr15:54897418-54897468	MCF-7	breast:	n/a
8	chr15:54897418-54897468	AG10803	skin:	n/a
9	chr15:54897418-54897468	HUVEC	blood vessel:	n/a
10	chr15:54897418-54897468	HAEpiC	amniotic membrane:	n/a
11	chr15:54897418-54897468	Caco-2	colon:	n/a
12	chr15:54897418-54897468	Jurkat	blood:	n/a
13	chr15:54897418-54897468	NH-A	brain:	n/a
14	chr15:54897418-54897468	GM12892	blood:	n/a
15	chr15:54897418-54897468	BJ	skin:	n/a
16	chr15:54897418-54897468	RPTEC	kidney:	n/a
17	chr15:54897418-54897468	HIPEpiC	eye:	n/a
18	chr15:54897418-54897468	HRPEpiC	eye:	n/a
19	chr15:54897418-54897468	SKMC	muscle:	n/a
20	chr15:54897418-54897468	HEK293	kidney:	embryo
21	chr15:54897418-54897468	Hepatocyte	liver:	n/a
22	chr15:54897418-54897468	HEEpiC	esophagus:	n/a
23	chr15:54897418-54897468	GM12878	blood:	n/a
24	chr15:54897418-54897468	HepG2	liver:	n/a
25	chr15:54897418-54897468	T-47D	breast:	n/a
26	chr15:54897418-54897468	U87	brain:	n/a
27	chr15:54897418-54897468	K562	blood:	n/a
28	chr15:54897418-54897468	LNCaP	prostate:	n/a
29	chr15:54897418-54897468	NB4	blood:	n/a
30	chr15:54897418-54897468	HRCEpiC	kidney:	n/a
31	chr15:54897418-54897468	AG04450	lung:	fetal
32	chr15:54897418-54897468	ECC-1	luminal epithelium:	n/a
33	chr15:54897418-54897468	A549	lung:	n/a
34	chr15:54897418-54897468	HCPEpiC	choroid plexus:	n/a
35	chr15:54897418-54897468	Hela-S3	cervix:	n/a
36	chr15:54897418-54897468	SK-N-SH	brain:	n/a
37	chr15:54897418-54897468	ProgFib	skin:	n/a
38	chr15:54897418-54897468	BE2_C	brain:	n/a
39	chr15:54897418-54897468	MCF10A-Er-Src	breast:	n/a
40	chr15:54897418-54897468	HPAEpiC	pulmonary alveolar:	n/a
41	chr15:54897418-54897468	HCF	heart:	n/a
42	chr15:54897418-54897468	SAEC	small airway:	n/a
43	chr15:54897418-54897468	GM19239	blood:	n/a
44	chr15:54897418-54897468	PFSK-1	brain:	n/a
45	chr15:54897418-54897468	HNPCEpiC	eye:	n/a
46	chr15:54897418-54897468	ovcar-3	ovarian:	n/a
47	chr15:54897418-54897468	HCT-116	colon:	n/a
48	chr15:54897418-54897468	HRE	kidney:	n/a
49	chr15:54897418-54897468	AG09309	skin:	n/a
50	chr15:54897418-54897468	GM12891	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-4	chr15:54902051-54903329	NONHSAT043976

No data

Variant related genes	Relation type
UNC13C	TF binding region
UNC13C	CpG island

Extended variants
information (count: 535 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6493693	chr15:54892583-54892584	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115049736	chr15:54892615-54892616	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578164173	chr15:54892635-54892636	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189495260	chr15:54892662-54892663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559558160	chr15:54892683-54892684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193009503	chr15:54892719-54892720	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548460666	chr15:54892735-54892736	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562060421	chr15:54892740-54892741	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377231706	chr15:54892798-54892799	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2251066	chr15:54892839-54892840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2037384	chr15:54892877-54892878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185878562	chr15:54892918-54892919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150475593	chr15:54892925-54892926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566682929	chr15:54892933-54892934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535654859	chr15:54892990-54892991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188907203	chr15:54893026-54893027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568338988	chr15:54893040-54893041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58584035	chr15:54893117-54893118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558106625	chr15:54893147-54893148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578083430	chr15:54893149-54893150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540692145	chr15:54893157-54893158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535634043	chr15:54893167-54893168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201622779	chr15:54893198-54893199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143978821	chr15:54893252-54893253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540727338	chr15:54893330-54893331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542045992	chr15:54893338-54893339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370222313	chr15:54893391-54893392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561815931	chr15:54893431-54893432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575684996	chr15:54893452-54893453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146611577	chr15:54893460-54893461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544200222	chr15:54893461-54893462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181645501	chr15:54893491-54893492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532772372	chr15:54893492-54893493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546241180	chr15:54893494-54893495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545925076	chr15:54893508-54893509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35193172	chr15:54893554-54893555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2681961	chr15:54893561-54893562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566272213	chr15:54893571-54893572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139129784	chr15:54893580-54893581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78454628	chr15:54893605-54893606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185376982	chr15:54893647-54893648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188434377	chr15:54893668-54893669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530787726	chr15:54893710-54893711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558179656	chr15:54893711-54893712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571623077	chr15:54893756-54893757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534234583	chr15:54893783-54893784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143065436	chr15:54893812-54893813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144680210	chr15:54893853-54893854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367743865	chr15:54893856-54893857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541635119	chr15:54893862-54893863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54887600-54892800	Strong transcription	Fetal Heart	heart
2	chr15:54892800-54894400	Weak transcription	Fetal Heart	heart
3	chr15:54893800-54894400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:54893800-54894600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:54893800-54895400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr15:54894000-54894200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr15:54894000-54894200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:54894000-54894400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:54894200-54894600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr15:54894400-54894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:54894400-54895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:54894400-54895200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:54894600-54896800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:54894600-54896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:54895200-54895400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:54895200-54895400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:54895400-54896600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:54895400-54897200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:54896000-54898600	Enhancers	Fetal Lung	lung
20	chr15:54896600-54897800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:54896600-54898000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:54896800-54897000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:54896800-54897000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:54896800-54897400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:54896800-54897600	Enhancers	Fetal Intestine Large	intestine
26	chr15:54896800-54897800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:54896800-54898400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:54896800-54899800	Weak transcription	Aorta	Aorta
29	chr15:54897000-54897800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:54897000-54897800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:54897000-54898000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:54897200-54897400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:54897200-54898200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:54897400-54897800	Enhancers	Fetal Stomach	stomach
35	chr15:54897800-54898000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:54897800-54898200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:54897800-54899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:54898200-54899800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:54898600-54899800	Weak transcription	Fetal Lung	lung
40	chr15:54899000-54899200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:54899800-54900000	Enhancers	Aorta	Aorta
42	chr15:54899800-54900200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr15:54899800-54901600	Enhancers	Fetal Lung	lung
44	chr15:54900000-54920600	Weak transcription	Aorta	Aorta
45	chr15:54900200-54901200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr15:54901000-54902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:54901200-54901400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr15:54901200-54902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links