Variant report

Variant	nsv962333
Chromosome Location	chr17:45246234-45248054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 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	chr17:45247280-45247430	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr17:45247300-45247450	AG09309	skin:	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	chr17:45247145-45247488	Hela-S3	cervix:	n/a	n/a
12	ELK1	chr17:45247205-45247541	GM12878	blood:	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	chr17:45247035-45247453	SH-SY5Y	brain:	n/a	n/a
17	GTF2F1	chr17:45247244-45247341	H1-hESC	embryonic stem cell:	n/a	n/a
18	IRF3	chr17:45247141-45247517	GM12878	blood:	n/a	n/a
19	MAFK	chr17:45247141-45247578	K562	blood:	n/a	n/a
20	MAFK	chr17:45247153-45247575	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr17:45247141-45247541	GM12878	blood:	n/a	n/a
22	MXI1	chr17:45247145-45247558	GM12878	blood:	n/a	n/a
23	NFYA	chr17:45247169-45247295	GM12878	blood:	n/a	n/a
24	NRF1	chr17:45247205-45247575	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:45247370-45247372	MCF10A-Er-Src	breast:	n/a	n/a
26	PRDM1	chr17:45247145-45247562	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr17:45247172-45247455	GM12878	blood:	n/a	n/a
28	RCOR1	chr17:45247140-45247511	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr17:45247204-45247577	GM12878	blood:	n/a	n/a
30	SMC3	chr17:45247145-45247564	GM12878	blood:	n/a	n/a
31	SMC3	chr17:45247204-45247578	Hela-S3	cervix:	n/a	n/a
32	SRF	chr17:45247243-45247419	GM12878	blood:	n/a	n/a
33	STAT3	chr17:45247204-45247512	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr17:45247204-45247577	K562	blood:	n/a	n/a
35	TBL1XR1	chr17:45247144-45247518	GM12878	blood:	n/a	n/a
36	TCF7L2	chr17:45247320-45247572	PANC-1	pancreas:	n/a	n/a
37	USF2	chr17:45247205-45247577	K562	blood:	n/a	n/a
38	USF2	chr17:45247207-45247577	Hela-S3	cervix:	n/a	n/a
39	WRNIP1	chr17:45247145-45247577	GM12878	blood:	n/a	n/a
40	ZNF143	chr17:45247145-45247511	Hela-S3	cervix:	n/a	n/a
41	ZNF143	chr17:45247170-45247578	K562	blood:	n/a	n/a
42	ZNF384	chr17:45247204-45247572	GM12878	blood:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
ENSG00000261872	TF binding region
CDC27	TF binding region
ENSG00000004897	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528716921	chr17:45246246-45246247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79431868	chr17:45246302-45246303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11570480	chr17:45246326-45246327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188603524	chr17:45246328-45246329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558815409	chr17:45246349-45246350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375393199	chr17:45246350-45246351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200138369	chr17:45246361-45246362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200758374	chr17:45246362-45246363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9911450	chr17:45246365-45246366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536376805	chr17:45246389-45246390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180777711	chr17:45246448-45246449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541610426	chr17:45246500-45246501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569678843	chr17:45246515-45246516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11570479	chr17:45246522-45246523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9905958	chr17:45246530-45246531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9911893	chr17:45246531-45246532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2956063	chr17:45246541-45246542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558627465	chr17:45246544-45246545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200888347	chr17:45246596-45246597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565858046	chr17:45246669-45246670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs221605	chr17:45246717-45246718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11570478	chr17:45246733-45246734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574557904	chr17:45246734-45246735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547238999	chr17:45246740-45246741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11570477	chr17:45246775-45246776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs221604	chr17:45246788-45246789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2956064	chr17:45246792-45246793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11570476	chr17:45246849-45246850	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559826602	chr17:45246856-45246857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528666240	chr17:45246868-45246869	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542032486	chr17:45246914-45246915	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575770195	chr17:45246919-45246920	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562285992	chr17:45246927-45246928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375919724	chr17:45246957-45246958	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182287651	chr17:45246970-45246971	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577244449	chr17:45247012-45247013	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369676840	chr17:45247030-45247031	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7501655	chr17:45247035-45247036	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549906691	chr17:45247037-45247038	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569666329	chr17:45247091-45247092	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565514382	chr17:45247111-45247112	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs146301864	chr17:45247156-45247157	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs562241952	chr17:45247229-45247230	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370698835	chr17:45247237-45247238	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139364321	chr17:45247257-45247258	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534932439	chr17:45247294-45247295	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201303434	chr17:45247311-45247312	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111886110	chr17:45247317-45247318	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199529489	chr17:45247333-45247334	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112488600	chr17:45247338-45247339	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS 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:328 , 50 per page) page: 1 2 3 4 5 6 7

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	chr17:45235800-45246400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:45235800-45246400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:45235800-45247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45235800-45247200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:45235800-45247200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:45235800-45247200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:45235800-45247200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr17:45235800-45247200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:45235800-45247200	Weak transcription	Brain Substantia Nigra	brain
13	chr17:45235800-45247200	Weak transcription	Fetal Brain Male	brain
14	chr17:45235800-45247200	Strong transcription	Fetal Thymus	thymus
15	chr17:45235800-45247200	Strong transcription	Dnd41	blood
16	chr17:45235800-45247200	Strong transcription	HepG2	liver
17	chr17:45235800-45247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:45235800-45247400	Weak transcription	Psoas Muscle	Psoas
19	chr17:45235800-45247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
27	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
28	chr17:45236800-45246400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:45237200-45247200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:45237400-45247200	Weak transcription	Colonic Mucosa	Colon
31	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
32	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
33	chr17:45237800-45246400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:45237800-45247600	Strong transcription	K562	blood
35	chr17:45238000-45247200	Strong transcription	HSMM	muscle
36	chr17:45239000-45249200	Weak transcription	Right Ventricle	heart
37	chr17:45239200-45249200	Weak transcription	Brain Angular Gyrus	brain
38	chr17:45240200-45247200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:45240800-45247000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:45240800-45248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:45241000-45247200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr17:45241000-45248400	Strong transcription	Osteobl	bone
43	chr17:45241000-45249200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr17:45241200-45247600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:45241400-45246400	Strong transcription	Liver	Liver
46	chr17:45241400-45246800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:45241400-45246800	Strong transcription	HUVEC	blood vessel
48	chr17:45241400-45247200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:45241400-45247200	Strong transcription	Adipose Nuclei	Adipose
50	chr17:45241400-45248400	Strong transcription	Fetal Intestine Large	intestine

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