Variant report

Variant	esv3438009
Chromosome Location	chr15:45329164-45353245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45337801-45337901	K562	blood:	n/a	n/a
2	ARID3A	chr15:45329319-45329634	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:45329324-45329584	K562	blood:	n/a	n/a
4	ARID3A	chr15:45340769-45342008	K562	blood:	n/a	n/a
5	ATF1	chr15:45340852-45341865	K562	blood:	n/a	n/a
6	ATF1	chr15:45329308-45329597	K562	blood:	n/a	n/a
7	ATF3	chr15:45340918-45341824	K562	blood:	n/a	n/a
8	BACH1	chr15:45340966-45341166	K562	blood:	n/a	n/a
9	BATF	chr15:45337691-45337949	GM12878	blood:	n/a	n/a
10	BATF	chr15:45337585-45337964	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:45337587-45337977	GM12878	blood:	n/a	n/a
12	BCL11A	chr15:45337685-45337969	GM12878	blood:	n/a	n/a
13	BCLAF1	chr15:45341041-45341659	K562	blood:	n/a	n/a
14	BCLAF1	chr15:45337579-45337935	GM12878	blood:	n/a	n/a
15	BCLAF1	chr15:45340858-45341346	GM12878	blood:	n/a	n/a
16	BHLHE40	chr15:45329338-45329540	GM12878	blood:	n/a	n/a
17	BHLHE40	chr15:45329352-45329551	K562	blood:	n/a	n/a
18	BHLHE40	chr15:45329320-45329614	HepG2	liver:	n/a	n/a
19	BHLHE40	chr15:45340908-45341047	GM12878	blood:	n/a	n/a
20	BHLHE40	chr15:45340918-45341750	K562	blood:	n/a	n/a
21	BRCA1	chr15:45329313-45329504	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr15:45340701-45341756	K562	blood:	n/a	n/a
23	CBX3	chr15:45342729-45343139	K562	blood:	n/a	n/a
24	CBX3	chr15:45351195-45351463	K562	blood:	n/a	n/a
25	CBX3	chr15:45340584-45341975	K562	blood:	n/a	n/a
26	CBX3	chr15:45342723-45343405	K562	blood:	n/a	n/a
27	CCNT2	chr15:45340869-45341881	K562	blood:	n/a	n/a
28	CEBPB	chr15:45350915-45351216	HepG2	liver:	n/a	n/a
29	CEBPB	chr15:45340905-45341776	K562	blood:	n/a	n/a
30	CEBPB	chr15:45329401-45329506	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr15:45329178-45329182	HepG2	liver:	n/a	n/a
32	CEBPB	chr15:45330494-45330691	HepG2	liver:	n/a	chr15:45330627-45330638
33	CEBPB	chr15:45340834-45341789	K562	blood:	n/a	n/a
34	CEBPB	chr15:45340951-45341229	K562	blood:	n/a	n/a
35	CEBPD	chr15:45340771-45341814	K562	blood:	n/a	n/a
36	CEBPD	chr15:45340785-45341839	K562	blood:	n/a	n/a
37	CEBPD	chr15:45337646-45338069	K562	blood:	n/a	n/a
38	CHD2	chr15:45337787-45337816	GM12878	blood:	n/a	n/a
39	CHD2	chr15:45329386-45329539	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr15:45329455-45329645	HepG2	liver:	n/a	n/a
41	CHD2	chr15:45329412-45329597	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr15:45329392-45329420	GM12878	blood:	n/a	n/a
43	CHD2	chr15:45329411-45329530	K562	blood:	n/a	n/a
44	CHD2	chr15:45340936-45341710	K562	blood:	n/a	n/a
45	CREB1	chr15:45340825-45341887	K562	blood:	n/a	n/a
46	CREB1	chr15:45340891-45341655	K562	blood:	n/a	n/a
47	CTCF	chr15:45333820-45333970	K562	blood:	n/a	n/a
48	CTCF	chr15:45333860-45334010	HCM	heart:	n/a	n/a
49	CTCF	chr15:45329309-45329613	GM19239	blood:	n/a	chr15:45329441-45329459 chr15:45329436-45329457
50	CTCF	chr15:45329380-45329530	GM12873	blood:	n/a	chr15:45329441-45329459 chr15:45329436-45329457

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-2	chr15:45350744-45350905	ENSG00000259418.1
2	lnc-DUOX2-2	chr15:45333914-45334010	ENSG00000259418.1
3	lnc-DUOX2-2	chr15:45334565-45334686	ENSG00000259418.1
4	lnc-DUOX2-2	chr15:45342704-45342864	ENSG00000259418.1

No data

Variant related genes	Relation type
ENSG00000252171	TF binding region
ENSG00000259418	TF binding region

Extended variants
information (count: 872 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529742474	chr15:45329167-45329168	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182373654	chr15:45329176-45329177	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560325019	chr15:45329217-45329218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186742003	chr15:45329264-45329265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111896706	chr15:45329320-45329321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571887496	chr15:45329338-45329339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537209373	chr15:45329347-45329348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551257926	chr15:45329378-45329379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79457997	chr15:45329398-45329399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192417891	chr15:45329418-45329419	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552931114	chr15:45329431-45329432	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113882667	chr15:45329432-45329433	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538768571	chr15:45329466-45329467	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188909230	chr15:45329467-45329468	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575404068	chr15:45329477-45329478	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192999152	chr15:45329484-45329485	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554889642	chr15:45329485-45329486	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142048531	chr15:45329490-45329491	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs66662768	chr15:45329491-45329492	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs56308554	chr15:45329510-45329511	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145798329	chr15:45329518-45329519	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138658948	chr15:45329548-45329549	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141384588	chr15:45329554-45329555	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573938197	chr15:45329582-45329583	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545926002	chr15:45329626-45329627	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185301970	chr15:45329672-45329673	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs60599005	chr15:45329726-45329727	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs61074192	chr15:45329728-45329729	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189412019	chr15:45329741-45329742	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530307850	chr15:45329766-45329767	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546860041	chr15:45329775-45329776	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs56090975	chr15:45329784-45329785	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113683361	chr15:45329833-45329834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59179198	chr15:45329861-45329862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558673713	chr15:45329894-45329895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144288613	chr15:45329896-45329897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146073734	chr15:45329919-45329920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12595543	chr15:45329920-45329921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574549040	chr15:45329952-45329953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142248155	chr15:45329979-45329980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181449455	chr15:45329991-45329992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376951064	chr15:45330000-45330001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545809755	chr15:45330025-45330026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562640996	chr15:45330031-45330032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531289174	chr15:45330069-45330070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544815608	chr15:45330128-45330129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11307522	chr15:45330161-45330162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75062335	chr15:45330174-45330175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185841458	chr15:45330181-45330182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4775709	chr15:45330196-45330197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
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
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr15:45316400-45333000	Weak transcription	Lung	lung
4	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
6	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:45316600-45329200	Weak transcription	NHLF	lung
9	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
12	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:45316800-45337600	Weak transcription	GM12878-XiMat	blood
20	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:45316800-45346400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
23	chr15:45319800-45339800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:45319800-45340600	Weak transcription	Right Ventricle	heart
25	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
26	chr15:45322000-45339600	Weak transcription	Ovary	ovary
27	chr15:45322000-45340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:45322000-45340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:45322000-45340600	Weak transcription	Primary T cells from cord blood	blood
30	chr15:45322000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:45322200-45339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:45322200-45339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:45322400-45335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:45322600-45340400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:45322600-45340600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:45323400-45340000	Weak transcription	NHEK	skin
37	chr15:45323600-45329200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:45323600-45332600	Weak transcription	Dnd41	blood
39	chr15:45323600-45332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:45323600-45341000	Weak transcription	Left Ventricle	heart
41	chr15:45323800-45329200	Weak transcription	Fetal Intestine Large	intestine
42	chr15:45323800-45329400	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:45323800-45330400	Weak transcription	Hela-S3	cervix
44	chr15:45323800-45333600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:45323800-45336000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:45323800-45336800	Weak transcription	Fetal Stomach	stomach
47	chr15:45323800-45337000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:45323800-45337000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:45323800-45338600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:45323800-45338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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