Variant report

Variant	nsv974561
Chromosome Location	chr15:40328074-40328773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40328406-40328659	T-47D	breast:	n/a	n/a
2	POLR2A	chr15:40328073-40328933	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:40328324-40328804	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:40328544-40329430	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:40328203-40328806	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:40328672-40328689	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:40328555-40328561	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:40327762-40329303	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:40326235-40329717	K562	blood:	n/a	n/a
10	POLR2A	chr15:40328117-40328243	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr15:40328283-40328387	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr15:40328383-40328887	SK-N-SH	brain:	n/a	n/a
13	SP1	chr15:40328347-40328667	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	chr15:40328029-40328079	AoSMC	blood vessel:	n/a
2	chr15:40328029-40328079	SK-N-MC	brain:	n/a
3	chr15:40328029-40328079	Hepatocyte	liver:	n/a
4	chr15:40328029-40328079	ProgFib	skin:	n/a
5	chr15:40328029-40328079	HRPEpiC	eye:	n/a
6	chr15:40328029-40328079	NB4	blood:	n/a
7	chr15:40328029-40328079	GM06990	blood:	n/a
8	chr15:40328029-40328079	HEK293	kidney:	embryo
9	chr15:40328029-40328079	U87	brain:	n/a
10	chr15:40328029-40328079	HAEpiC	amniotic membrane:	n/a
11	chr15:40328029-40328079	T-47D	breast:	n/a
12	chr15:40328029-40328079	HRE	kidney:	n/a
13	chr15:40328029-40328079	HL-60	blood:	n/a
14	chr15:40328029-40328079	HNPCEpiC	eye:	n/a
15	chr15:40328029-40328079	SK-N-SH_RA	brain:	n/a
16	chr15:40328029-40328079	AG09309	skin:	n/a
17	chr15:40328029-40328079	HCPEpiC	choroid plexus:	n/a
18	chr15:40328029-40328079	NHBE	bronchial:	n/a
19	chr15:40328029-40328079	CMK	blood:	n/a
20	chr15:40328029-40328079	HMEC	breast:	n/a
21	chr15:40328029-40328079	PFSK-1	brain:	n/a
22	chr15:40328029-40328079	NH-A	brain:	n/a
23	chr15:40328029-40328079	BJ	skin:	n/a
24	chr15:40328029-40328079	HRCEpiC	kidney:	n/a
25	chr15:40328029-40328079	SK-N-SH	brain:	n/a
26	chr15:40328029-40328079	Caco-2	colon:	n/a
27	chr15:40328029-40328079	GM19239	blood:	n/a
28	chr15:40328029-40328079	LNCaP	prostate:	n/a
29	chr15:40328029-40328079	Jurkat	blood:	n/a
30	chr15:40328029-40328079	MCF10A-Er-Src	breast:	n/a
31	chr15:40328029-40328079	K562	blood:	n/a
32	chr15:40328029-40328079	NHDF-neo	bronchial:	n/a
33	chr15:40328029-40328079	AG09319	gingival:	n/a
34	chr15:40328029-40328079	HPAEpiC	pulmonary alveolar:	n/a
35	chr15:40328029-40328079	GM12891	blood:	n/a
36	chr15:40328029-40328079	AG10803	skin:	n/a
37	chr15:40328029-40328079	AG04450	lung:	fetal
38	chr15:40328029-40328079	A549	lung:	n/a
39	chr15:40328029-40328079	BE2_C	brain:	n/a
40	chr15:40328029-40328079	MCF-7	breast:	n/a
41	chr15:40328029-40328079	AG04449	skin:	fetal
42	chr15:40328029-40328079	GM12878	blood:	n/a
43	chr15:40328029-40328079	RPTEC	kidney:	n/a
44	chr15:40328029-40328079	GM12892	blood:	n/a
45	chr15:40328029-40328079	IMR90	lung:	fetal
46	chr15:40328029-40328079	HEEpiC	esophagus:	n/a
47	chr15:40328029-40328079	ovcar-3	ovarian:	n/a
48	chr15:40328029-40328079	SKMC	muscle:	n/a
49	chr15:40328029-40328079	Hela-S3	cervix:	n/a
50	chr15:40328029-40328079	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:40328437..40331273-chr15:40400158..40402046,2	MCF-7	breast:
2	chr15:40325553..40329490-chr15:40330087..40333048,4	MCF-7	breast:
3	chr15:40213220..40215803-chr15:40326300..40329438,3	K562	blood:
4	chr15:40327332..40330451-chr15:40508677..40510849,3	K562	blood:
5	chr15:40326501..40329204-chr15:40561797..40564190,2	K562	blood:
6	chr15:40225146..40227825-chr15:40327705..40330693,2	MCF-7	breast:
7	chr15:40323089..40325366-chr15:40328758..40330544,2	K562	blood:
8	chr15:40320262..40321776-chr15:40327124..40329040,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRP14-AS1	TF binding region
SRP14-AS1	CpG island
ENSG00000200305	chromatin interactions
ENSG00000104081	chromatin interactions
ENSG00000259288	chromatin interactions
ENSG00000248508	chromatin interactions
ENSG00000140319	chromatin interactions
ENSG00000246863	chromatin interactions
ENSG00000128829	chromatin interactions
ENSG00000156970	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555450972	chr15:40328102-40328103	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs572214633	chr15:40328159-40328160	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs371579719	chr15:40328168-40328169	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs182952959	chr15:40328176-40328177	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs564098990	chr15:40328188-40328189	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs577987510	chr15:40328200-40328201	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs371751737	chr15:40328212-40328213	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs543717605	chr15:40328255-40328256	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs16924528	chr15:40328292-40328293	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529086951	chr15:40328345-40328346	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs549167506	chr15:40328361-40328362	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs559410717	chr15:40328375-40328376	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs150964319	chr15:40328413-40328414	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs1059613	chr15:40328447-40328448	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs113051637	chr15:40328451-40328452	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs11542831	chr15:40328479-40328480	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs200415110	chr15:40328501-40328502	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs149732177	chr15:40328517-40328518	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs551276514	chr15:40328545-40328546	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs8683	chr15:40328551-40328552	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs4814	chr15:40328557-40328558	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs16924519	chr15:40328560-40328561	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs16924521	chr15:40328566-40328567	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs553652196	chr15:40328568-40328569	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs572153118	chr15:40328569-40328570	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs8874	chr15:40328571-40328572	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs200831083	chr15:40328572-40328573	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs7535	chr15:40328575-40328576	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376432051	chr15:40328576-40328577	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs543304746	chr15:40328581-40328582	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs199851589	chr15:40328590-40328591	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs368676201	chr15:40328591-40328592	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs550938068	chr15:40328596-40328597	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs377432895	chr15:40328597-40328598	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs556326548	chr15:40328605-40328606	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs373217608	chr15:40328636-40328637	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs368297592	chr15:40328660-40328661	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs8208	chr15:40328665-40328666	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs7179904	chr15:40328718-40328719	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370885733	chr15:40328720-40328721	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs200561192	chr15:40328721-40328722	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs7180081	chr15:40328750-40328751	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577050155	chr15:40328766-40328767	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs188839547	chr15:40328767-40328768	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Oral squamous cell carcinoma	17134496	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40303000-40329600	Strong transcription	Liver	Liver
2	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
4	chr15:40306800-40329800	Strong transcription	Osteobl	bone
5	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr15:40307600-40329200	Strong transcription	HMEC	breast
11	chr15:40307800-40329600	Strong transcription	NH-A	brain
12	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:40308000-40329000	Strong transcription	HepG2	liver
14	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
16	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:40310000-40330000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr15:40310600-40328800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:40310600-40329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:40310600-40330000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:40310600-40330000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:40313600-40329200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:40313600-40329800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:40314000-40329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:40314000-40330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:40315000-40328400	Weak transcription	Aorta	Aorta
34	chr15:40315000-40329600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr15:40315000-40329800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:40315000-40330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40316400-40329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:40316400-40329400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr15:40316400-40330200	Strong transcription	Placenta	Placenta
40	chr15:40316800-40329800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:40317800-40329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:40319200-40330000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:40319800-40329800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:40320000-40330000	Strong transcription	Fetal Intestine Large	intestine
45	chr15:40320200-40329000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:40320400-40329200	Strong transcription	Primary T cells from cord blood	blood
47	chr15:40320400-40330000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr15:40320400-40330000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:40320400-40330000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:40320600-40329000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links