Variant report

Variant	esv3447780
Chromosome Location	chr17:45244823-45247336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:45247205-45247577	K562	blood:	n/a	n/a
2	BRCA1	chr17:45247204-45247519	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr17:45247141-45247518	GM12878	blood:	n/a	n/a
4	CEBPB	chr17:45247144-45247579	K562	blood:	n/a	n/a
5	CTCF	chr17:45247260-45247410	GM12866	blood:	n/a	n/a
6	CTCF	chr17:45247300-45247450	AG09309	skin:	n/a	n/a
7	CTCF	chr17:45247280-45247430	HRPEpiC	eye:	n/a	n/a
8	CUX1	chr17:45247141-45247518	GM12878	blood:	n/a	n/a
9	CUX1	chr17:45247145-45247577	K562	blood:	n/a	n/a
10	E2F4	chr17:45247208-45247572	MCF10A-Er-Src	breast:	n/a	n/a
11	ELK1	chr17:45247205-45247541	GM12878	blood:	n/a	n/a
12	ELK1	chr17:45247145-45247488	Hela-S3	cervix:	n/a	n/a
13	EP300	chr17:45247188-45247513	GM12878	blood:	n/a	n/a
14	FOS	chr17:45247190-45247541	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXP2	chr17:45247231-45247463	SK-N-MC	brain:	n/a	n/a
16	GATA3	chr17:45245252-45245294	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr17:45247035-45247453	SH-SY5Y	brain:	n/a	n/a
18	GTF2F1	chr17:45247244-45247341	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF3	chr17:45247141-45247517	GM12878	blood:	n/a	n/a
20	MAFK	chr17:45247141-45247578	K562	blood:	n/a	n/a
21	MAFK	chr17:45247153-45247575	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr17:45247141-45247541	GM12878	blood:	n/a	n/a
23	MXI1	chr17:45247145-45247558	GM12878	blood:	n/a	n/a
24	NFYA	chr17:45247169-45247295	GM12878	blood:	n/a	n/a
25	NRF1	chr17:45247205-45247575	GM12878	blood:	n/a	n/a
26	POLR2A	chr17:45245160-45245168	K562	blood:	n/a	n/a
27	PRDM1	chr17:45247145-45247562	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr17:45247172-45247455	GM12878	blood:	n/a	n/a
29	RCOR1	chr17:45247140-45247511	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr17:45247204-45247577	GM12878	blood:	n/a	n/a
31	SMC3	chr17:45247204-45247578	Hela-S3	cervix:	n/a	n/a
32	SMC3	chr17:45247145-45247564	GM12878	blood:	n/a	n/a
33	SRF	chr17:45247243-45247419	GM12878	blood:	n/a	n/a
34	STAT3	chr17:45247204-45247512	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr17:45247204-45247577	K562	blood:	n/a	n/a
36	TBL1XR1	chr17:45247144-45247518	GM12878	blood:	n/a	n/a
37	TCF7L2	chr17:45247320-45247572	PANC-1	pancreas:	n/a	n/a
38	USF2	chr17:45247207-45247577	Hela-S3	cervix:	n/a	n/a
39	USF2	chr17:45247205-45247577	K562	blood:	n/a	n/a
40	WRNIP1	chr17:45247145-45247577	GM12878	blood:	n/a	n/a
41	ZNF143	chr17:45247145-45247511	Hela-S3	cervix:	n/a	n/a
42	ZNF143	chr17:45247170-45247578	K562	blood:	n/a	n/a
43	ZNF384	chr17:45247204-45247572	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45240711..45243126-chr17:45243872..45245467,2	MCF-7	breast:
2	chr17:45244585..45246962-chr17:45247878..45249835,2	K562	blood:
3	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261872	TF binding region
ENSG00000004897	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569905906	chr17:45244932-45244933	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547401828	chr17:45244954-45244955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538880135	chr17:45244955-45244956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191299996	chr17:45244975-45244976	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571291402	chr17:45245037-45245038	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113715411	chr17:45245043-45245044	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182425317	chr17:45245053-45245054	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553686289	chr17:45245104-45245105	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573557943	chr17:45245118-45245119	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538741442	chr17:45245126-45245127	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542937414	chr17:45245192-45245193	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556540954	chr17:45245207-45245208	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537492291	chr17:45245287-45245288	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149583496	chr17:45245352-45245353	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545253487	chr17:45245370-45245371	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187813720	chr17:45245373-45245374	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112006064	chr17:45245380-45245381	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565667274	chr17:45245392-45245393	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541177016	chr17:45245393-45245394	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561288731	chr17:45245427-45245428	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369929300	chr17:45245443-45245444	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530083170	chr17:45245490-45245491	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529859642	chr17:45245512-45245513	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150602555	chr17:45245535-45245536	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs193150560	chr17:45245538-45245539	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563666648	chr17:45245559-45245560	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532687704	chr17:45245586-45245587	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs202120807	chr17:45245601-45245602	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77144621	chr17:45245611-45245612	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs533835833	chr17:45245617-45245618	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577617261	chr17:45245618-45245619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547219810	chr17:45245669-45245670	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567259274	chr17:45245708-45245709	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185249853	chr17:45245733-45245734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556477578	chr17:45245741-45245742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576379310	chr17:45245753-45245754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538574836	chr17:45245768-45245769	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558678489	chr17:45245775-45245776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572150417	chr17:45245800-45245801	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569883155	chr17:45245823-45245824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372592988	chr17:45245852-45245853	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541511442	chr17:45245856-45245857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537224804	chr17:45245928-45245929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558454041	chr17:45245946-45245947	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574470182	chr17:45245949-45245950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570760104	chr17:45245968-45245969	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188215062	chr17:45245973-45245974	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193157511	chr17:45246076-45246077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148329804	chr17:45246077-45246078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183878164	chr17:45246111-45246112	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:45234600-45249400	Strong transcription	A549	lung
3	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45235800-45245000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:45235800-45245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:45235800-45245000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:45235800-45245200	Weak transcription	Fetal Kidney	kidney
8	chr17:45235800-45246400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:45235800-45246400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:45235800-45247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45235800-45247200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:45235800-45247200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:45235800-45247200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:45235800-45247200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:45235800-45247200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:45235800-45247200	Weak transcription	Brain Substantia Nigra	brain
17	chr17:45235800-45247200	Weak transcription	Fetal Brain Male	brain
18	chr17:45235800-45247200	Strong transcription	Fetal Thymus	thymus
19	chr17:45235800-45247200	Strong transcription	Dnd41	blood
20	chr17:45235800-45247200	Strong transcription	HepG2	liver
21	chr17:45235800-45247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:45235800-45247400	Weak transcription	Psoas Muscle	Psoas
23	chr17:45235800-45247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
31	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
32	chr17:45236800-45246400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:45237200-45245000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:45237200-45245000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:45237200-45245000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:45237200-45245200	Weak transcription	Esophagus	oesophagus
37	chr17:45237200-45247200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:45237400-45245000	Weak transcription	Gastric	stomach
39	chr17:45237400-45245000	Weak transcription	Ovary	ovary
40	chr17:45237400-45245000	Weak transcription	Spleen	Spleen
41	chr17:45237400-45245200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:45237400-45247200	Weak transcription	Colonic Mucosa	Colon
43	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
44	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
45	chr17:45237800-45246400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:45237800-45247600	Strong transcription	K562	blood
47	chr17:45238000-45245000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:45238000-45245000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:45238000-45247200	Strong transcription	HSMM	muscle
50	chr17:45238200-45245000	Weak transcription	Stomach Smooth Muscle	stomach

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