Variant report

Variant	esv3323896
Chromosome Location	chr15:35461212-35462267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:35461923-35461948	K562	blood:	n/a	n/a
2	ARID3A	chr15:35460326-35461529	K562	blood:	n/a	chr15:35461378-35461394
3	GATA1	chr15:35458248-35461221	K562	blood:	n/a	chr15:35459994-35460005 chr15:35460782-35460791 chr15:35459115-35459122 chr15:35459108-35459129 chr15:35459115-35459122 chr15:35459115-35459122 chr15:35459110-35459126 chr15:35459115-35459125 chr15:35459113-35459123
4	JUN	chr15:35460332-35461983	K562	blood:	n/a	chr15:35460780-35460790 chr15:35460779-35460791 chr15:35460781-35460789 chr15:35460781-35460788 chr15:35460782-35460793 chr15:35460780-35460789
5	POLR2A	chr15:35461708-35461746	ProgFib	skin:	n/a	n/a
6	SPI1	chr15:35461646-35461813	K562	blood:	n/a	n/a
7	SPI1	chr15:35461499-35461933	HL-60	blood:	n/a	chr15:35461887-35461894 chr15:35461881-35461894

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:35461860-35461910	HEEpiC	esophagus:	n/a
2	chr15:35461860-35461910	A549	lung:	n/a
3	chr15:35461860-35461910	PFSK-1	brain:	n/a
4	chr15:35461860-35461910	NB4	blood:	n/a
5	chr15:35461860-35461910	ProgFib	skin:	n/a
6	chr15:35461860-35461910	SK-N-SH	brain:	n/a
7	chr15:35461860-35461910	HCPEpiC	choroid plexus:	n/a
8	chr15:35461860-35461910	HEK293	kidney:	embryo
9	chr15:35461860-35461910	AG10803	skin:	n/a
10	chr15:35461860-35461910	HCT-116	colon:	n/a
11	chr15:35461860-35461910	Jurkat	blood:	n/a
12	chr15:35461860-35461910	PANC-1	pancreas:	n/a
13	chr15:35461860-35461910	BJ	skin:	n/a
14	chr15:35461860-35461910	PrEC	prostate:	n/a
15	chr15:35461860-35461910	HCM	heart:	n/a
16	chr15:35461860-35461910	NHDF-neo	bronchial:	n/a
17	chr15:35461860-35461910	AG09309	skin:	n/a
18	chr15:35461860-35461910	GM12878	blood:	n/a
19	chr15:35461860-35461910	HRE	kidney:	n/a
20	chr15:35461860-35461910	H1-hESC	embryonic stem cell:	embryo
21	chr15:35461860-35461910	RPTEC	kidney:	n/a
22	chr15:35461860-35461910	HCF	heart:	n/a
23	chr15:35461860-35461910	NH-A	brain:	n/a
24	chr15:35461860-35461910	NT2-D1	testis:	n/a
25	chr15:35461860-35461910	GM19239	blood:	n/a
26	chr15:35461860-35461910	GM12891	blood:	n/a
27	chr15:35461860-35461910	ovcar-3	ovarian:	n/a
28	chr15:35461860-35461910	HepG2	liver:	n/a
29	chr15:35461860-35461910	AoSMC	blood vessel:	n/a
30	chr15:35461860-35461910	Caco-2	colon:	n/a
31	chr15:35461860-35461910	GM12892	blood:	n/a
32	chr15:35461860-35461910	AG04450	lung:	fetal
33	chr15:35461860-35461910	MCF-7	breast:	n/a
34	chr15:35461860-35461910	ECC-1	luminal epithelium:	n/a
35	chr15:35461860-35461910	T-47D	breast:	n/a
36	chr15:35461860-35461910	AG09319	gingival:	n/a
37	chr15:35461860-35461910	HRPEpiC	eye:	n/a
38	chr15:35461860-35461910	HMEC	breast:	n/a
39	chr15:35461860-35461910	HRCEpiC	kidney:	n/a
40	chr15:35461860-35461910	HUVEC	blood vessel:	n/a
41	chr15:35461860-35461910	CMK	blood:	n/a
42	chr15:35461860-35461910	SKMC	muscle:	n/a
43	chr15:35461860-35461910	Hepatocyte	liver:	n/a
44	chr15:35461860-35461910	HAEpiC	amniotic membrane:	n/a
45	chr15:35461860-35461910	IMR90	lung:	fetal
46	chr15:35461860-35461910	HL-60	blood:	n/a
47	chr15:35461860-35461910	HIPEpiC	eye:	n/a
48	chr15:35461860-35461910	SAEC	small airway:	n/a
49	chr15:35461860-35461910	HNPCEpiC	eye:	n/a
50	chr15:35461860-35461910	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35452501..35454584-chr15:35459063..35461579,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPBD4-1	chr15:35461826-35461899	ENSG00000259336.1

No data

Variant related genes	Relation type
ENSG00000259336	TF binding region
ENSG00000259336	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536562578	chr15:35461219-35461220	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554701132	chr15:35461278-35461279	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149696181	chr15:35461394-35461395	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181824467	chr15:35461406-35461407	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558825309	chr15:35461447-35461448	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556056043	chr15:35461450-35461451	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571123283	chr15:35461460-35461461	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577152336	chr15:35461549-35461550	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544644661	chr15:35461574-35461575	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556613786	chr15:35461632-35461633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538479404	chr15:35461715-35461716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200408550	chr15:35461727-35461728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185965203	chr15:35461740-35461741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1458885	chr15:35461760-35461761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560249630	chr15:35461771-35461772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77612190	chr15:35461833-35461834	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs564859472	chr15:35461838-35461839	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551212327	chr15:35461853-35461854	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532100316	chr15:35461861-35461862	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs12591832	chr15:35461890-35461891	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562152117	chr15:35461930-35461931	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs115389193	chr15:35461944-35461945	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191828167	chr15:35461951-35461952	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371497913	chr15:35462013-35462014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534162625	chr15:35462022-35462023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144479353	chr15:35462041-35462042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4597271	chr15:35462142-35462143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538352683	chr15:35462200-35462201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4923920	chr15:35462220-35462221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139121103	chr15:35462222-35462223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183172481	chr15:35462250-35462251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186337688	chr15:35462253-35462254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372261775	chr15:35462262-35462263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hodgkin''s lymphoma	17606441	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35458800-35473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:35459200-35462200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:35459200-35467800	Weak transcription	Fetal Kidney	kidney
4	chr15:35459800-35463000	Enhancers	NHDF-Ad	bronchial
5	chr15:35460000-35462800	Enhancers	Rectal Smooth Muscle	rectum
6	chr15:35460200-35461600	Active TSS	K562	blood
7	chr15:35460200-35463400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:35460400-35461400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:35460400-35462600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:35460600-35461400	Flanking Active TSS	HUVEC	blood vessel
11	chr15:35460600-35463400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:35460800-35461600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:35460800-35461600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:35460800-35461800	Weak transcription	Osteobl	bone
15	chr15:35461000-35462800	Enhancers	Colon Smooth Muscle	Colon
16	chr15:35461000-35463600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:35461200-35462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:35461200-35462200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:35461200-35462400	Weak transcription	NH-A	brain
20	chr15:35461200-35462600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:35461400-35462000	Enhancers	HUVEC	blood vessel
22	chr15:35461600-35461800	Flanking Active TSS	K562	blood
23	chr15:35461600-35462200	Enhancers	Brain Anterior Caudate	brain
24	chr15:35461600-35462800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:35461800-35462000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:35461800-35463000	Enhancers	NHLF	lung
27	chr15:35461800-35463200	Enhancers	Osteobl	bone
28	chr15:35461800-35463600	Enhancers	K562	blood
29	chr15:35462200-35462400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr15:35462200-35462600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:35462200-35462800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:35462200-35463600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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