Variant report

Variant	esv3415353
Chromosome Location	chr17:45234688-45234941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:45234134-45234726	K562	blood:	n/a	n/a
2	BACH1	chr17:45234131-45234799	K562	blood:	n/a	n/a
3	BHLHE40	chr17:45234136-45234800	K562	blood:	n/a	n/a
4	BRCA1	chr17:45234130-45234799	GM12878	blood:	n/a	n/a
5	BRCA1	chr17:45234133-45234796	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr17:45234137-45234861	K562	blood:	n/a	n/a
7	CHD2	chr17:45234130-45234796	K562	blood:	n/a	n/a
8	CTCF	chr17:45234560-45234710	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr17:45234560-45234710	GM12869	blood:	n/a	n/a
10	CTCF	chr17:45234540-45234690	MCF-7	breast:	n/a	n/a
11	CTCF	chr17:45234580-45234730	GM12865	blood:	n/a	n/a
12	CTCF	chr17:45234560-45234710	GM12875	blood:	n/a	n/a
13	CUX1	chr17:45234133-45234834	K562	blood:	n/a	n/a
14	CUX1	chr17:45234131-45234798	GM12878	blood:	n/a	n/a
15	E2F4	chr17:45234140-45234928	MCF10A-Er-Src	breast:	n/a	n/a
16	ELK1	chr17:45234132-45234755	K562	blood:	n/a	n/a
17	ELK1	chr17:45234128-45234803	GM12878	blood:	n/a	n/a
18	EP300	chr17:45234135-45234800	GM12878	blood:	n/a	chr17:45234190-45234198
19	EP300	chr17:45234147-45234726	K562	blood:	n/a	chr17:45234190-45234198
20	EP300	chr17:45234135-45234797	K562	blood:	n/a	chr17:45234190-45234198
21	FOS	chr17:45234131-45234801	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXP2	chr17:45234200-45234781	SK-N-MC	brain:	n/a	n/a
23	GATA3	chr17:45234136-45234714	SH-SY5Y	brain:	n/a	n/a
24	GTF2F1	chr17:45234138-45234797	Hela-S3	cervix:	n/a	n/a
25	GTF2F1	chr17:45234136-45234799	K562	blood:	n/a	n/a
26	GTF3C2	chr17:45234137-45234760	Hela-S3	cervix:	n/a	n/a
27	HA-E2F1	chr17:45234131-45234797	MCF-7	breast:	n/a	n/a
28	HCFC1	chr17:45234137-45234798	K562	blood:	n/a	n/a
29	IRF1	chr17:45234141-45234772	K562	blood:	n/a	n/a
30	IRF3	chr17:45234138-45234797	Hela-S3	cervix:	n/a	chr17:45234785-45234794
31	IRF3	chr17:45234134-45234797	GM12878	blood:	n/a	chr17:45234785-45234794
32	KAP1	chr17:45234142-45234798	K562	blood:	n/a	n/a
33	MAFF	chr17:45234135-45234798	K562	blood:	n/a	n/a
34	MAFK	chr17:45234139-45234721	Hela-S3	cervix:	n/a	n/a
35	MAFK	chr17:45234131-45234800	K562	blood:	n/a	n/a
36	MAX	chr17:45234133-45234793	GM12878	blood:	n/a	n/a
37	MAZ	chr17:45234138-45234801	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr17:45234130-45234799	GM12878	blood:	n/a	n/a
39	MXI1	chr17:45234143-45234799	GM12878	blood:	n/a	n/a
40	MXI1	chr17:45234138-45234798	Hela-S3	cervix:	n/a	n/a
41	MYC	chr17:45234139-45234783	MCF10A-Er-Src	breast:	n/a	n/a
42	NR2C2	chr17:45234132-45234798	GM12878	blood:	n/a	n/a
43	NRF1	chr17:45234147-45234797	Hela-S3	cervix:	n/a	n/a
44	NRF1	chr17:45234137-45234799	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:45234132-45234715	MCF10A-Er-Src	breast:	n/a	n/a
46	PRDM1	chr17:45234135-45234796	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr17:45234135-45234710	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr17:45234137-45234798	GM12878	blood:	n/a	n/a
49	RCOR1	chr17:45234133-45234732	K562	blood:	n/a	n/a
50	RELA	chr17:45234134-45234797	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:
2	chr17:45234327..45234832-chr2:133019437..133020117,2	MCF-7	breast:
3	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000263293	chromatin interactions
ENSG00000233786	chromatin interactions
ENSG00000178852	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140171160	chr17:45234689-45234690	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs147617501	chr17:45234702-45234703	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs113608268	chr17:45234704-45234705	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143453365	chr17:45234706-45234707	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75353677	chr17:45234707-45234708	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142987740	chr17:45234709-45234710	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs78395997	chr17:45234710-45234711	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs139751753	chr17:45234713-45234714	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs202182614	chr17:45234720-45234721	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199899451	chr17:45234721-45234722	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs529064011	chr17:45234746-45234747	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs148497428	chr17:45234749-45234750	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369988089	chr17:45234760-45234761	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs554810148	chr17:45234761-45234762	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs577503859	chr17:45234762-45234763	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs184521617	chr17:45234769-45234770	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs537914509	chr17:45234835-45234836	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs541921777	chr17:45234899-45234900	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs558288731	chr17:45234919-45234920	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs140288772	chr17:45234931-45234932	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45234200-45235800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45234200-45235800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45234200-45235800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr17:45234200-45235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr17:45234200-45235800	ZNF genes & repeats	Dnd41	blood
7	chr17:45234200-45235800	ZNF genes & repeats	Hela-S3	cervix
8	chr17:45234200-45235800	ZNF genes & repeats	HMEC	breast
9	chr17:45234200-45235800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr17:45234200-45235800	ZNF genes & repeats	Osteobl	bone
11	chr17:45234400-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45234400-45236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45234400-45236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45234600-45234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:45234600-45235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:45234600-45235400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:45234600-45235400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:45234600-45235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45234600-45235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45234600-45235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45234600-45235400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:45234600-45235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45234600-45235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:45234600-45235400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45234600-45235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:45234600-45235400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:45234600-45235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45234600-45235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:45234600-45235400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:45234600-45235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45234600-45235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:45234600-45235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:45234600-45235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45234600-45235400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:45234600-45235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:45234600-45235400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:45234600-45235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:45234600-45235400	Weak transcription	Primary B cells from cord blood	blood
40	chr17:45234600-45235400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:45234600-45235400	Weak transcription	Primary T cells from cord blood	blood
42	chr17:45234600-45235400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:45234600-45235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:45234600-45235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45234600-45235400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr17:45234600-45235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr17:45234600-45235400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:45234600-45235400	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links