Variant report

Variant	esv3334202
Chromosome Location	chr17:45217342-45219470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:45219072-45219456	K562	blood:	n/a	n/a
2	BRF2	chr17:45219077-45219542	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr17:45219082-45219450	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr17:45219120-45219270	AG04449	skin:	n/a	n/a
5	CTCF	chr17:45219140-45219290	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr17:45219160-45219310	GM12866	blood:	n/a	n/a
7	CTCF	chr17:45219160-45219310	WI-38	lung:	n/a	n/a
8	CTCF	chr17:45219200-45219350	BJ	skin:	n/a	n/a
9	CTCF	chr17:45219200-45219350	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr17:45219200-45219350	HRE	kidney:	n/a	n/a
11	CTCF	chr17:45219140-45219290	MCF-7	breast:	n/a	n/a
12	CTCF	chr17:45219220-45219370	GM12868	blood:	n/a	n/a
13	CTCF	chr17:45219120-45219270	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr17:45219220-45219370	AG04450	lung:	n/a	n/a
15	CTCF	chr17:45219200-45219350	Caco-2	colon:	n/a	n/a
16	CTCF	chr17:45219160-45219310	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:45219220-45219370	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr17:45219240-45219390	GM12801	blood:	n/a	n/a
19	CTCF	chr17:45219120-45219270	AG10803	skin:	n/a	n/a
20	CTCF	chr17:45219160-45219310	NHLF	lung:	n/a	n/a
21	CTCF	chr17:45219220-45219370	AG09309	skin:	n/a	n/a
22	CTCF	chr17:45219140-45219290	WI-38	lung:	n/a	n/a
23	CTCF	chr17:45219160-45219310	HCT-116	colon:	n/a	n/a
24	CTCF	chr17:45219160-45219310	HAc	cerebellar:	n/a	n/a
25	CTCF	chr17:45219240-45219390	GM12865	blood:	n/a	n/a
26	CTCF	chr17:45219220-45219370	GM12871	blood:	n/a	n/a
27	CTCF	chr17:45219160-45219310	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr17:45219160-45219310	GM12868	blood:	n/a	n/a
29	CTCF	chr17:45219120-45219270	HCFaa	heart:	n/a	n/a
30	CTCF	chr17:45219220-45219370	AG04449	skin:	n/a	n/a
31	CTCF	chr17:45219120-45219270	HPF	lung:	n/a	n/a
32	CTCF	chr17:45219120-45219270	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr17:45219160-45219310	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr17:45219120-45219270	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr17:45219160-45219310	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr17:45219160-45219310	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr17:45219220-45219370	GM12870	blood:	n/a	n/a
38	CTCF	chr17:45219180-45219330	HCM	heart:	n/a	n/a
39	CTCF	chr17:45219160-45219310	RPTEC	kidney:	n/a	n/a
40	CTCF	chr17:45219120-45219270	GM12878	blood:	n/a	n/a
41	E2F4	chr17:45218456-45218780	MCF10A-Er-Src	breast:	n/a	n/a
42	ELK1	chr17:45219079-45219451	Hela-S3	cervix:	n/a	n/a
43	FAM48A	chr17:45219073-45219446	GM12878	blood:	n/a	n/a
44	FOXP2	chr17:45219148-45219445	SK-N-MC	brain:	n/a	n/a
45	GATA3	chr17:45219093-45219456	SH-SY5Y	brain:	n/a	n/a
46	GTF2F1	chr17:45219073-45219458	K562	blood:	n/a	n/a
47	GTF2F1	chr17:45219072-45219457	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
49	IKZF1	chr17:45219092-45219443	GM12878	blood:	n/a	n/a
50	IRF1	chr17:45219077-45219452	K562	blood:	n/a	chr17:45219164-45219178

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:

No data

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

Extended variants
information (count: 110 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551974723	chr17:45217351-45217352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559607194	chr17:45217369-45217370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8071243	chr17:45217376-45217377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537191948	chr17:45217391-45217392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9905948	chr17:45217429-45217430	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570564733	chr17:45217441-45217442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561833893	chr17:45217449-45217450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534781567	chr17:45217468-45217469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553015260	chr17:45217480-45217481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560142566	chr17:45217514-45217515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200820305	chr17:45217627-45217628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527282124	chr17:45217642-45217643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548521942	chr17:45217678-45217679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201322653	chr17:45217721-45217722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530943763	chr17:45217729-45217730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201822387	chr17:45217750-45217751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550684970	chr17:45217797-45217798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567040817	chr17:45217842-45217843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149846983	chr17:45217865-45217866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533374385	chr17:45217869-45217870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547510445	chr17:45217917-45217918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546932985	chr17:45217926-45217927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375385962	chr17:45217943-45217944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185525802	chr17:45217950-45217951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145847421	chr17:45217968-45217969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549633420	chr17:45217982-45217983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565820050	chr17:45218047-45218048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11570531	chr17:45218052-45218053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568139454	chr17:45218065-45218066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188033399	chr17:45218066-45218067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12939729	chr17:45218074-45218075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12948252	chr17:45218075-45218076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557107780	chr17:45218095-45218096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368006079	chr17:45218122-45218123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11570530	chr17:45218168-45218169	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539420136	chr17:45218184-45218185	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143738475	chr17:45218191-45218192	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573129806	chr17:45218285-45218286	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537511290	chr17:45218293-45218294	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11570529	chr17:45218312-45218313	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575115224	chr17:45218326-45218327	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535347634	chr17:45218345-45218346	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11570528	chr17:45218424-45218425	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11570527	chr17:45218432-45218433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533170845	chr17:45218462-45218463	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540171113	chr17:45218489-45218490	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376994143	chr17:45218551-45218552	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141297048	chr17:45218596-45218597	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369937187	chr17:45218630-45218631	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529643557	chr17:45218632-45218633	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45214800-45218400	Strong transcription	Fetal Intestine Large	intestine
5	chr17:45214800-45219000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:45214800-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:45214800-45219000	Weak transcription	Right Atrium	heart
8	chr17:45214800-45219000	Weak transcription	Right Ventricle	heart
9	chr17:45214800-45219000	Weak transcription	Small Intestine	intestine
10	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:45215000-45219000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
14	chr17:45215400-45218800	Strong transcription	A549	lung
15	chr17:45215800-45218600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr17:45216200-45219000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:45216200-45219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:45216200-45219000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45216200-45219000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:45216200-45219000	Weak transcription	Lung	lung
21	chr17:45216200-45219000	Weak transcription	Ovary	ovary
22	chr17:45216200-45219000	Weak transcription	Thymus	Thymus
23	chr17:45216400-45217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:45216400-45217400	Weak transcription	Primary B cells from cord blood	blood
25	chr17:45216400-45217400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:45216400-45217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:45216400-45217400	Weak transcription	Adipose Nuclei	Adipose
28	chr17:45216400-45217400	Weak transcription	HMEC	breast
29	chr17:45216400-45217600	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45216400-45217600	Weak transcription	Fetal Kidney	kidney
31	chr17:45216400-45217600	Weak transcription	K562	blood
32	chr17:45216400-45218000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:45216400-45218200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45216400-45218600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr17:45216400-45218600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:45216400-45218600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:45216400-45218600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:45216400-45218600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45216400-45218800	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:45216400-45219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:45216400-45219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:45216400-45219000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:45216400-45219000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:45216400-45219000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:45216400-45219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:45216400-45219000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:45216400-45219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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