Variant report

Variant	esv3420040
Chromosome Location	chr15:41627110-41628708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:41626673-41627190	K562	blood:	n/a	n/a
2	BHLHE40	chr15:41628614-41629153	GM12878	blood:	n/a	n/a
3	CEBPB	chr15:41626653-41627268	K562	blood:	n/a	n/a
4	CEBPD	chr15:41626559-41627130	K562	blood:	n/a	n/a
5	CEBPD	chr15:41626657-41627183	K562	blood:	n/a	n/a
6	GATA1	chr15:41628687-41629166	PBDE	blood:	n/a	n/a
7	GATA1	chr15:41626542-41627297	PBDE	blood:	n/a	chr15:41626884-41626895
8	GTF3C2	chr15:41625093-41627178	Hela-S3	cervix:	n/a	n/a
9	IRF1	chr15:41626704-41627238	K562	blood:	n/a	n/a
10	JUN	chr15:41626765-41627165	K562	blood:	n/a	n/a
11	KAP1	chr15:41626194-41627237	HEK293	kidney:	n/a	n/a
12	MAX	chr15:41626837-41627117	K562	blood:	n/a	n/a
13	NR2F2	chr15:41626415-41627198	K562	blood:	n/a	n/a
14	PML	chr15:41626563-41627115	K562	blood:	n/a	n/a
15	POLR2A	chr15:41626561-41627147	GM12878	blood:	n/a	n/a
16	SPI1	chr15:41628495-41628845	HL-60	blood:	n/a	n/a
17	SPI1	chr15:41628501-41628763	GM12891	blood:	n/a	n/a
18	STAT5A	chr15:41626604-41627169	K562	blood:	n/a	chr15:41626755-41626763
19	TAL1	chr15:41626652-41627222	K562	blood:	n/a	n/a
20	TEAD4	chr15:41626554-41627259	K562	blood:	n/a	n/a
21	TEAD4	chr15:41626516-41627112	K562	blood:	n/a	n/a
22	WRNIP1	chr15:41628502-41629014	GM12878	blood:	n/a	n/a
23	ZNF263	chr15:41626703-41627165	HEK293-T-REx	kidney:	n/a	n/a
24	ZNF274	chr15:41627588-41628178	K562	blood:	n/a	n/a
25	ZNF384	chr15:41628614-41629117	GM12878	blood:	n/a	n/a
26	ZNF384	chr15:41628635-41629285	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41623109..41624716-chr15:41626647..41628687,2	K562	blood:
2	chr15:41506769..41509087-chr15:41627220..41629152,2	K562	blood:
3	chr15:41573497..41577986-chr15:41624362..41627823,9	K562	blood:

No data

Variant related genes	Relation type
OIP5	TF binding region
ENSG00000104147	chromatin interactions
ENSG00000247556	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540403804	chr15:41627133-41627134	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554526205	chr15:41627161-41627162	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs561927167	chr15:41627191-41627192	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs181664537	chr15:41627256-41627257	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs10635011	chr15:41627470-41627471	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34842886	chr15:41627471-41627472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs59107612	chr15:41627473-41627474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56053993	chr15:41627474-41627475	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112758208	chr15:41627484-41627485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547688352	chr15:41627487-41627488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536260229	chr15:41627517-41627518	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs59972234	chr15:41627559-41627560	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112696782	chr15:41627603-41627604	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs11631396	chr15:41627609-41627610	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs36091573	chr15:41627646-41627647	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs148445385	chr15:41627680-41627681	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs533251473	chr15:41627720-41627721	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549832804	chr15:41627725-41627726	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs546755787	chr15:41627743-41627744	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557063813	chr15:41627774-41627775	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs185900477	chr15:41627871-41627872	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142623873	chr15:41627911-41627912	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372678158	chr15:41627919-41627920	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111400362	chr15:41627922-41627923	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548763496	chr15:41627934-41627935	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566267423	chr15:41627952-41627953	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534870949	chr15:41627963-41627964	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558314874	chr15:41627966-41627967	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571634770	chr15:41627967-41627968	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537344035	chr15:41627998-41627999	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556974698	chr15:41628011-41628012	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146807557	chr15:41628022-41628023	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543108132	chr15:41628073-41628074	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553160660	chr15:41628236-41628237	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572223574	chr15:41628275-41628276	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540905204	chr15:41628300-41628301	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111533086	chr15:41628319-41628320	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533313818	chr15:41628322-41628323	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543732567	chr15:41628348-41628349	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139595229	chr15:41628350-41628351	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528847386	chr15:41628415-41628416	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113121358	chr15:41628466-41628467	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199958380	chr15:41628467-41628468	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545163942	chr15:41628469-41628470	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549084235	chr15:41628610-41628611	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs554320514	chr15:41628674-41628675	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41623000-41627200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:41623000-41627200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:41623000-41627200	Active TSS	A549	lung
4	chr15:41623000-41627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41623400-41627200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:41623400-41627200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:41623400-41627400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:41623600-41627200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:41623600-41627200	Active TSS	Thymus	Thymus
10	chr15:41623600-41627200	Active TSS	Hela-S3	cervix
11	chr15:41623800-41627200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:41623800-41627200	Active TSS	NHDF-Ad	bronchial
13	chr15:41623800-41627400	Active TSS	GM12878-XiMat	blood
14	chr15:41623800-41627400	Active TSS	K562	blood
15	chr15:41624000-41627200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr15:41624000-41627400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:41624200-41627200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:41624200-41627200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:41624200-41627200	Active TSS	HSMM	muscle
20	chr15:41624200-41627400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr15:41625400-41670200	Weak transcription	Gastric	stomach
22	chr15:41625600-41627200	Active TSS	Brain Germinal Matrix	brain
23	chr15:41625600-41659200	Weak transcription	Lung	lung
24	chr15:41625800-41665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
26	chr15:41626000-41627200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:41626000-41642000	Weak transcription	Ovary	ovary
28	chr15:41626000-41665200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:41626200-41627200	Enhancers	Primary B cells from peripheral blood	blood
30	chr15:41626200-41627200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr15:41626200-41627600	Weak transcription	Stomach Mucosa	stomach
32	chr15:41626200-41629800	Weak transcription	Fetal Intestine Large	intestine
33	chr15:41626200-41632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:41626200-41633600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:41626200-41640600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:41626200-41643400	Weak transcription	Spleen	Spleen
37	chr15:41626200-41658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:41626200-41678200	Weak transcription	Liver	Liver
39	chr15:41626200-41680200	Weak transcription	Fetal Brain Male	brain
40	chr15:41626400-41627200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:41626400-41627200	Enhancers	Osteobl	bone
42	chr15:41626400-41627400	Flanking Active TSS	Dnd41	blood
43	chr15:41626400-41630200	Weak transcription	Fetal Heart	heart
44	chr15:41626400-41677800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:41626400-41678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:41626600-41627200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr15:41626600-41627200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:41626600-41627200	Flanking Active TSS	NHEK	skin
49	chr15:41626600-41627400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:41626600-41627400	Flanking Active TSS	HUVEC	blood vessel

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