Variant report

Variant	nsv1039548
Chromosome Location	chr15:54856965-54914519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:54909959-54910868	HepG2	liver:	n/a	n/a
2	ATF2	chr15:54874932-54875387	GM12878	blood:	n/a	n/a
3	ATF2	chr15:54874932-54875503	GM12878	blood:	n/a	n/a
4	BATF	chr15:54875043-54875462	GM12878	blood:	n/a	n/a
5	BATF	chr15:54868799-54869119	GM12878	blood:	n/a	chr15:54868969-54868980
6	BATF	chr15:54875811-54876146	GM12878	blood:	n/a	n/a
7	BATF	chr15:54908894-54909106	GM12878	blood:	n/a	chr15:54909011-54909022
8	BCL11A	chr15:54875821-54876150	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:54874932-54875462	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:54875822-54876112	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:54875088-54875445	GM12878	blood:	n/a	n/a
12	BCLAF1	chr15:54875022-54875350	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:54868960-54869025	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:54913156-54913250	GM12878	blood:	n/a	n/a
15	BHLHE40	chr15:54874807-54876267	GM12878	blood:	n/a	n/a
16	BHLHE40	chr15:54876018-54876211	K562	blood:	n/a	n/a
17	BHLHE40	chr15:54909020-54909028	GM12878	blood:	n/a	n/a
18	BRCA1	chr15:54877809-54877948	GM12878	blood:	n/a	n/a
19	CEBPB	chr15:54910340-54910679	HepG2	liver:	n/a	n/a
20	CEBPB	chr15:54912045-54912305	HepG2	liver:	n/a	chr15:54912151-54912162 chr15:54912150-54912163
21	CEBPB	chr15:54872032-54872244	HepG2	liver:	n/a	chr15:54872109-54872120 chr15:54872110-54872121 chr15:54872111-54872120
22	CEBPB	chr15:54910450-54910580	HepG2	liver:	n/a	n/a
23	CEBPB	chr15:54872029-54872154	A549	lung:	n/a	chr15:54872109-54872120 chr15:54872110-54872121 chr15:54872111-54872120
24	CHD1	chr15:54874915-54878001	GM12878	blood:	n/a	n/a
25	CHD1	chr15:54869120-54869146	GM12878	blood:	n/a	n/a
26	CHD1	chr15:54878209-54878291	GM12878	blood:	n/a	n/a
27	CHD1	chr15:54878696-54879050	GM12878	blood:	n/a	n/a
28	CHD2	chr15:54875857-54876277	GM12878	blood:	n/a	n/a
29	CHD2	chr15:54874691-54875624	GM12878	blood:	n/a	n/a
30	CHD2	chr15:54868972-54869105	GM12878	blood:	n/a	n/a
31	CHD2	chr15:54877231-54877562	GM12878	blood:	n/a	n/a
32	CTCF	chr15:54886440-54886590	NB4	blood:	n/a	n/a
33	CTCF	chr15:54886460-54886610	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr15:54886459-54886579	HepG2	liver:	n/a	n/a
35	CTCF	chr15:54886480-54886630	RPTEC	kidney:	n/a	n/a
36	CTCF	chr15:54886447-54886588	GM19240	blood:	n/a	n/a
37	CTCF	chr15:54886420-54886570	GM12873	blood:	n/a	n/a
38	CTCF	chr15:54886375-54886648	HepG2	liver:	n/a	n/a
39	CTCF	chr15:54886490-54886559	GM12891	blood:	n/a	n/a
40	CTCF	chr15:54886476-54886587	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:54886433-54886565	LNCaP	prostate:	n/a	n/a
42	CTCF	chr15:54886441-54886570	LNCaP	prostate:	n/a	n/a
43	CTCF	chr15:54886480-54886630	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr15:54886440-54886590	HEK293	kidney:	n/a	n/a
45	CTCF	chr15:54886460-54886610	HepG2	liver:	n/a	n/a
46	CTCF	chr15:54886510-54886518	GM12892	blood:	n/a	n/a
47	CTCF	chr15:54886443-54886556	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr15:54886490-54886565	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr15:54886360-54886510	GM12875	blood:	n/a	n/a
50	CTCF	chr15:54886444-54886601	H1-hESC	embryonic stem cell:	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	NB4	blood:	n/a
2	chr15:54897418-54897468	SK-N-MC	brain:	n/a
3	chr15:54897418-54897468	U87	brain:	n/a
4	chr15:54897418-54897468	CMK	blood:	n/a
5	chr15:54897418-54897468	ECC-1	luminal epithelium:	n/a
6	chr15:54897418-54897468	NH-A	brain:	n/a
7	chr15:54897418-54897468	AG04449	skin:	fetal
8	chr15:54897418-54897468	HL-60	blood:	n/a
9	chr15:54897418-54897468	SKMC	muscle:	n/a
10	chr15:54897418-54897468	BJ	skin:	n/a
11	chr15:54897418-54897468	HIPEpiC	eye:	n/a
12	chr15:54897418-54897468	ProgFib	skin:	n/a
13	chr15:54897418-54897468	ovcar-3	ovarian:	n/a
14	chr15:54897418-54897468	GM12891	blood:	n/a
15	chr15:54897418-54897468	HRE	kidney:	n/a
16	chr15:54897418-54897468	HCF	heart:	n/a
17	chr15:54897418-54897468	RPTEC	kidney:	n/a
18	chr15:54897418-54897468	HEK293	kidney:	embryo
19	chr15:54897418-54897468	MCF-7	breast:	n/a
20	chr15:54897418-54897468	HEEpiC	esophagus:	n/a
21	chr15:54897418-54897468	BE2_C	brain:	n/a
22	chr15:54897418-54897468	T-47D	breast:	n/a
23	chr15:54897418-54897468	SK-N-SH	brain:	n/a
24	chr15:54897418-54897468	SAEC	small airway:	n/a
25	chr15:54897418-54897468	NHBE	bronchial:	n/a
26	chr15:54897418-54897468	Jurkat	blood:	n/a
27	chr15:54897418-54897468	HRCEpiC	kidney:	n/a
28	chr15:54897418-54897468	LNCaP	prostate:	n/a
29	chr15:54897418-54897468	A549	lung:	n/a
30	chr15:54897418-54897468	GM06990	blood:	n/a
31	chr15:54897418-54897468	GM12878	blood:	n/a
32	chr15:54897418-54897468	AG04450	lung:	fetal
33	chr15:54897418-54897468	HUVEC	blood vessel:	n/a
34	chr15:54897418-54897468	SK-N-SH_RA	brain:	n/a
35	chr15:54897418-54897468	HPAEpiC	pulmonary alveolar:	n/a
36	chr15:54897418-54897468	HAEpiC	amniotic membrane:	n/a
37	chr15:54897418-54897468	GM12892	blood:	n/a
38	chr15:54897418-54897468	NT2-D1	testis:	n/a
39	chr15:54897418-54897468	HNPCEpiC	eye:	n/a
40	chr15:54897418-54897468	H1-hESC	embryonic stem cell:	embryo
41	chr15:54897418-54897468	PFSK-1	brain:	n/a
42	chr15:54897418-54897468	HCPEpiC	choroid plexus:	n/a
43	chr15:54897418-54897468	GM19239	blood:	n/a
44	chr15:54897418-54897468	Hepatocyte	liver:	n/a
45	chr15:54897418-54897468	HRPEpiC	eye:	n/a
46	chr15:54897418-54897468	HepG2	liver:	n/a
47	chr15:54897418-54897468	Caco-2	colon:	n/a
48	chr15:54897418-54897468	AG10803	skin:	n/a
49	chr15:54897418-54897468	PrEC	prostate:	n/a
50	chr15:54897418-54897468	PANC-1	pancreas:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54867084..54868948-chr15:54872476..54874542,2	K562	blood:
2	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:
3	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:
4	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:
5	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
6	chr15:54867084..54868948-chr15:54872476..54874542,2	K562	blood:
7	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
8	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:

(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: 2369 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2369 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188120850	chr15:54856978-54856979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559332060	chr15:54857011-54857012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75088765	chr15:54857017-54857018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375513107	chr15:54857040-54857041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113385595	chr15:54857058-54857059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111517400	chr15:54857085-54857086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192646430	chr15:54857114-54857115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8041282	chr15:54857185-54857186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs184200828	chr15:54857197-54857198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28432763	chr15:54857256-54857257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374357844	chr15:54857271-54857272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139015799	chr15:54857342-54857343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533104431	chr15:54857354-54857355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189515759	chr15:54857370-54857371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1829532	chr15:54857392-54857393	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193017815	chr15:54857443-54857444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146366513	chr15:54857519-54857520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139333273	chr15:54857563-54857564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184720805	chr15:54857578-54857579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74014223	chr15:54857588-54857589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144128834	chr15:54857597-54857598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577713247	chr15:54857600-54857601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144267636	chr15:54857632-54857633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368393276	chr15:54857727-54857728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553092157	chr15:54857729-54857730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74014224	chr15:54857733-54857734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542035579	chr15:54857737-54857738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561946184	chr15:54857749-54857750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530866901	chr15:54857777-54857778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188917022	chr15:54857823-54857824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564072459	chr15:54857832-54857833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533050845	chr15:54857890-54857891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546391250	chr15:54857891-54857892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560710693	chr15:54857896-54857897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529447406	chr15:54857902-54857903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549589290	chr15:54857942-54857943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181665060	chr15:54857950-54857951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144595858	chr15:54857960-54857961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560922313	chr15:54857963-54857964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564853423	chr15:54858008-54858009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185393959	chr15:54858014-54858015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571317480	chr15:54858041-54858042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534265253	chr15:54858053-54858054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550066243	chr15:54858067-54858068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574113000	chr15:54858145-54858146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535281234	chr15:54858154-54858155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10152437	chr15:54858187-54858188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189687726	chr15:54858195-54858196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181461658	chr15:54858263-54858264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10152447	chr15:54858264-54858265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
2	chr15:54839800-54858800	Weak transcription	Fetal Lung	lung
3	chr15:54855600-54857400	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:54856000-54857200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:54856400-54857200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:54857200-54858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:54857200-54859000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:54857400-54863800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:54858200-54860200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:54858800-54860200	Enhancers	Fetal Lung	lung
11	chr15:54859000-54860200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:54859400-54859600	Enhancers	Fetal Muscle Leg	muscle
13	chr15:54860200-54863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:54860200-54863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:54863800-54864200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells	blood
17	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:54867600-54871200	Enhancers	Fetal Lung	lung
20	chr15:54868200-54868600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:54868600-54869600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:54868800-54870000	Enhancers	Adipose Nuclei	Adipose
23	chr15:54869600-54870000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:54869600-54870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr15:54869600-54870000	Enhancers	Aorta	Aorta
26	chr15:54869600-54870000	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:54869600-54870000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:54869600-54870200	Enhancers	Fetal Muscle Leg	muscle
29	chr15:54870000-54870800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:54870000-54879800	Weak transcription	Aorta	Aorta
31	chr15:54870200-54870600	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:54870600-54871200	Enhancers	Fetal Muscle Leg	muscle
33	chr15:54870800-54871200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:54871200-54871400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:54871200-54882400	Weak transcription	Fetal Lung	lung
36	chr15:54871400-54873400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:54872200-54873800	Weak transcription	Fetal Heart	heart
38	chr15:54872600-54873000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:54872800-54873400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:54873400-54874400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:54873800-54880800	Strong transcription	Fetal Heart	heart
42	chr15:54874400-54874600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr15:54874600-54875200	Enhancers	GM12878-XiMat	blood
44	chr15:54875200-54875600	Weak transcription	GM12878-XiMat	blood
45	chr15:54875600-54875800	Enhancers	GM12878-XiMat	blood
46	chr15:54875800-54876000	Flanking Active TSS	GM12878-XiMat	blood
47	chr15:54875800-54876200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:54876000-54878400	Active TSS	GM12878-XiMat	blood
49	chr15:54876200-54876600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:54879800-54880000	ZNF genes & repeats	Aorta	Aorta

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