Variant report

Variant	nsv1047032
Chromosome Location	chr15:39679896-39706685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39688689..39690644-chr15:39690686..39693111,2	MCF-7	breast:
2	chr15:39683407..39685977-chr15:39689632..39691631,2	MCF-7	breast:
3	chr1:149223091..149225186-chr15:39684235..39686134,2	MCF-7	breast:
4	chr15:39680767..39685014-chr15:39686318..39690917,5	K562	blood:
5	chr15:39679859..39682267-chr15:39688446..39690917,2	K562	blood:
6	chr15:39689811..39692581-chr15:39692665..39695062,3	K562	blood:
7	chr15:39704919..39707647-chr20:52293554..52295684,2	MCF-7	breast:
8	chr15:39686331..39688222-chr15:39874533..39876316,2	MCF-7	breast:
9	chr15:39684874..39687815-chr15:39688159..39690874,2	MCF-7	breast:
10	chr15:39693251..39695685-chr15:39695839..39698387,3	K562	blood:
11	chr15:39680767..39685014-chr15:39686318..39690917,5	K562	blood:
12	chr15:39693671..39697771-chr15:39871894..39873705,4	MCF-7	breast:
13	chr15:39698653..39701088-chr15:39877017..39879720,2	MCF-7	breast:
14	chr15:39687930..39690603-chr15:39694421..39696812,2	MCF-7	breast:
15	chr15:39694167..39696674-chr15:39698967..39702842,3	K562	blood:
16	chr15:39683407..39685977-chr15:39689632..39691631,2	MCF-7	breast:
17	chr15:39689811..39692581-chr15:39692665..39695062,3	K562	blood:
18	chr15:39688689..39690644-chr15:39690686..39693111,2	MCF-7	breast:
19	chr15:39684874..39687815-chr15:39688159..39690874,2	MCF-7	breast:
20	chr15:39696668..39698687-chr15:39702884..39705384,2	MCF-7	breast:
21	chr15:39679668..39681537-chr15:39681975..39684409,2	K562	blood:
22	chr15:39705799..39707909-chr15:39873297..39874835,2	MCF-7	breast:
23	chr15:39694167..39696674-chr15:39698967..39702842,3	K562	blood:
24	chr15:39693251..39695685-chr15:39695839..39698387,3	K562	blood:
25	chr15:39693251..39695685-chr15:39695839..39697787,2	K562	blood:
26	chr15:39693251..39695685-chr15:39695839..39697787,2	K562	blood:
27	chr15:39679859..39682267-chr15:39688446..39690917,2	K562	blood:
28	chr15:39694348..39696610-chr15:39874084..39875864,2	MCF-7	breast:
29	chr15:39679668..39681537-chr15:39681975..39684409,2	K562	blood:
30	chr15:39471065..39473001-chr15:39694678..39697568,2	MCF-7	breast:
31	chr15:39689591..39691834-chr15:39708077..39710104,2	K562	blood:
32	chr15:39696668..39698687-chr15:39702884..39705384,2	MCF-7	breast:
33	chr15:39687930..39690603-chr15:39694421..39696812,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf54-2	chr15:39680887-39681108	XLOC_011215
2	lnc-C15orf54-2	chr15:39680863-39680961	XLOC_011215
3	lnc-C15orf54-2	chr15:39684805-39684838	XLOC_011215
4	lnc-FSIP1-8	chr15:39688872-39689442	l_1148_chr15:39688871-39700983_testes
5	lnc-C15orf54-2	chr15:39680836-39680961	XLOC_011215
6	lnc-FSIP1-8	chr15:39699803-39700983	l_1148_chr15:39688871-39700983_testes
7	lnc-FSIP1-8	chr15:39689634-39689690	l_1148_chr15:39688871-39700983_testes
8	lnc-FSIP1-8	chr15:39692025-39692273	l_1148_chr15:39688871-39700983_testes

No data

Variant related genes	Relation type
ENSG00000137801	chromatin interactions
ENSG00000206737	chromatin interactions
BTG3	miRNA target sites

Extended variants
information (count: 993 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576874004	chr15:39679899-39679900	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190248000	chr15:39679909-39679910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78001195	chr15:39679914-39679915	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568530259	chr15:39679936-39679937	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs117336508	chr15:39679937-39679938	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554126205	chr15:39679979-39679980	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141163350	chr15:39679980-39679981	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs60664658	chr15:39679996-39679997	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375433949	chr15:39680030-39680031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558154709	chr15:39680123-39680124	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529347225	chr15:39680127-39680128	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574913207	chr15:39680144-39680145	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543937381	chr15:39680153-39680154	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371144762	chr15:39680251-39680252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574498543	chr15:39680325-39680326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115521894	chr15:39680340-39680341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544256133	chr15:39680372-39680373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560463533	chr15:39680381-39680382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74902129	chr15:39680385-39680386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35132492	chr15:39680390-39680391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532484468	chr15:39680403-39680404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562652006	chr15:39680410-39680411	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562843313	chr15:39680419-39680420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540495106	chr15:39680456-39680457	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144874986	chr15:39680482-39680483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs548355219	chr15:39680506-39680507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138252922	chr15:39680518-39680519	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540981166	chr15:39680533-39680534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547616412	chr15:39680547-39680548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570784994	chr15:39680575-39680576	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140925490	chr15:39680580-39680581	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182863683	chr15:39680620-39680621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140791124	chr15:39680634-39680635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187533418	chr15:39680646-39680647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76889501	chr15:39680661-39680662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192912418	chr15:39680719-39680720	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554363529	chr15:39680750-39680751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150186503	chr15:39680767-39680768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540040069	chr15:39680772-39680773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533325396	chr15:39680782-39680783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183896388	chr15:39680795-39680796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7167226	chr15:39680810-39680811	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546088596	chr15:39680837-39680838	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs58267286	chr15:39680846-39680847	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs367822490	chr15:39680874-39680875	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs376489042	chr15:39680895-39680896	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs553061817	chr15:39680917-39680918	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138811751	chr15:39680934-39680935	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs4493018	chr15:39680960-39680961	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375156331	chr15:39680987-39680988	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39672600-39680400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:39677200-39684400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:39679800-39680200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:39679800-39680600	Enhancers	A549	lung
5	chr15:39679800-39681000	Enhancers	Fetal Intestine Large	intestine
6	chr15:39679800-39681000	Enhancers	HepG2	liver
7	chr15:39680200-39680600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:39680200-39681000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:39680400-39680600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:39680600-39680800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:39680600-39681000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:39680600-39681000	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:39680600-39681000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr15:39680600-39681200	Enhancers	Fetal Heart	heart
15	chr15:39680600-39685000	Weak transcription	A549	lung
16	chr15:39680800-39681000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr15:39681000-39682800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:39681000-39684800	Weak transcription	Fetal Intestine Large	intestine
19	chr15:39681000-39684800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr15:39681000-39685400	Weak transcription	HepG2	liver
21	chr15:39681000-39688800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:39681000-39691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:39681200-39683200	Weak transcription	Fetal Heart	heart
24	chr15:39682400-39687800	Enhancers	Hela-S3	cervix
25	chr15:39682800-39683600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr15:39682800-39686800	Enhancers	NHEK	skin
27	chr15:39683000-39684200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:39683000-39684200	Enhancers	HMEC	breast
29	chr15:39683000-39684400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:39683000-39684600	Enhancers	Colon Smooth Muscle	Colon
31	chr15:39683200-39683600	Enhancers	Fetal Heart	heart
32	chr15:39683200-39686600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:39683200-39687000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:39683400-39683600	Enhancers	Right Atrium	heart
35	chr15:39683400-39684400	Enhancers	Osteobl	bone
36	chr15:39683400-39685000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:39683400-39686000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:39683600-39684600	Weak transcription	Fetal Heart	heart
39	chr15:39684000-39684400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:39684200-39684400	Enhancers	Right Atrium	heart
41	chr15:39684200-39685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:39684400-39686200	Weak transcription	Osteobl	bone
43	chr15:39684400-39686600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:39684600-39685200	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:39684600-39685400	Enhancers	Fetal Heart	heart
46	chr15:39684800-39685000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:39684800-39685600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr15:39684800-39686600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr15:39684800-39687800	Enhancers	HUVEC	blood vessel
50	chr15:39684800-39688400	Enhancers	Fetal Intestine Large	intestine

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