Variant report

Variant	esv1809431
Chromosome Location	chr17:45619018-45670038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:45665734-45665783	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr17:45644646-45644894	Hela-S3	cervix:	n/a	chr17:45644788-45644801
3	CEBPB	chr17:45665577-45665788	HepG2	liver:	n/a	n/a
4	CEBPB	chr17:45665580-45665831	IMR90	lung:	n/a	n/a
5	CEBPB	chr17:45632282-45632410	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr17:45665734-45665763	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr17:45665732-45665756	K562	blood:	n/a	n/a
8	CEBPB	chr17:45665566-45665892	A549	lung:	n/a	n/a
9	CTCF	chr17:45639653-45639953	A549	lung:	n/a	n/a
10	CTCF	chr17:45669308-45669361	MCF-7	breast:	n/a	n/a
11	CTCF	chr17:45639466-45640016	A549	lung:	n/a	n/a
12	CTCF	chr17:45639600-45639750	HAc	cerebellar:	n/a	n/a
13	CTCF	chr17:45639640-45639790	HFF	foreskin:	n/a	n/a
14	CTCF	chr17:45639787-45639938	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr17:45633424-45633495	GM10248	blood:	n/a	n/a
16	CTCF	chr17:45639794-45639931	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr17:45639821-45639905	GM13977	blood:	n/a	n/a
18	CTCF	chr17:45639350-45639422	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:45639786-45639888	HepG2	liver:	n/a	n/a
20	CTCF	chr17:45639620-45639770	HepG2	liver:	n/a	n/a
21	CTCF	chr17:45639768-45639951	GM12878	blood:	n/a	n/a
22	CTCF	chr17:45639756-45639890	Gliobla	brain:	n/a	n/a
23	CTCF	chr17:45639760-45639940	K562	blood:	n/a	n/a
24	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
25	CTCF	chr17:45639620-45639770	GM12869	blood:	n/a	n/a
26	CTCF	chr17:45639608-45639654	GM19240	blood:	n/a	n/a
27	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
28	CTCF	chr17:45639580-45639730	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr17:45639791-45639953	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr17:45639841-45639902	LNCaP	prostate:	n/a	n/a
31	CTCF	chr17:45639752-45639953	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr17:45639735-45639948	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:45639819-45639881	GM10248	blood:	n/a	n/a
34	CTCF	chr17:45639939-45639941	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr17:45639761-45639910	MCF-7	breast:	n/a	n/a
36	CTCF	chr17:45639691-45639984	K562	blood:	n/a	n/a
37	CTCF	chr17:45639800-45639917	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr17:45639620-45639770	HEK293	kidney:	n/a	n/a
39	CTCF	chr17:45639761-45639816	ProgFib	skin:	n/a	n/a
40	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
41	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
43	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
44	FOSL2	chr17:45665110-45665491	HepG2	liver:	n/a	chr17:45665303-45665315
45	FOXA1	chr17:45665043-45665586	HepG2	liver:	n/a	chr17:45665190-45665202 chr17:45665317-45665329
46	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
47	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
48	FOXA1	chr17:45634879-45635200	HepG2	liver:	n/a	chr17:45634892-45634904 chr17:45635023-45635035
49	FOXA1	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
50	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45607951..45610083-chr17:45616920..45619918,2	MCF-7	breast:

Variant related genes	Relation type
NPEPPS	TF binding region
ENSG00000206734	TF binding region
ENSG00000141279	chromatin interactions

Extended variants
information (count: 1881 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1881 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538766142	chr17:45619027-45619028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141819921	chr17:45619034-45619035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565758066	chr17:45619038-45619039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368331551	chr17:45619160-45619161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533842549	chr17:45619243-45619244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181018100	chr17:45619245-45619246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200790094	chr17:45619327-45619328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534666780	chr17:45619383-45619384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2940215	chr17:45619415-45619416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9901319	chr17:45619441-45619442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574820941	chr17:45619495-45619496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543704445	chr17:45619574-45619575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557315376	chr17:45619579-45619580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4060770	chr17:45619610-45619611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4060771	chr17:45619611-45619612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192802070	chr17:45619612-45619613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577329963	chr17:45619640-45619641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544782179	chr17:45619642-45619643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564967201	chr17:45619666-45619667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527363311	chr17:45619678-45619679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541053507	chr17:45619702-45619703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184349884	chr17:45619703-45619704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9907450	chr17:45619752-45619753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142144927	chr17:45619760-45619761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530054225	chr17:45619771-45619772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151195658	chr17:45619775-45619776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550007393	chr17:45619786-45619787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569754069	chr17:45619789-45619790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139527742	chr17:45619801-45619802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552404466	chr17:45619853-45619854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565871229	chr17:45619871-45619872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372158448	chr17:45619900-45619901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397857323	chr17:45619936-45619937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527716321	chr17:45619963-45619964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5026415	chr17:45619977-45619978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116848555	chr17:45620037-45620038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5026411	chr17:45620056-45620057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190513061	chr17:45620091-45620092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568106002	chr17:45620093-45620094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537356011	chr17:45620133-45620134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557587000	chr17:45620160-45620161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386797433	chr17:45620171-45620172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62073973	chr17:45620173-45620174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199829662	chr17:45620176-45620177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577390312	chr17:45620194-45620195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546410136	chr17:45620210-45620211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62073974	chr17:45620240-45620241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149221714	chr17:45620249-45620250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572214761	chr17:45620276-45620277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541114967	chr17:45620286-45620287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Urothelial carcinoma	21177765	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Epithelial cancer	20478067	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45609800-45624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:45610000-45623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:45610000-45624000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:45610000-45624400	Weak transcription	Placenta	Placenta
5	chr17:45610000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:45610000-45630000	Weak transcription	Gastric	stomach
7	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:45610000-45670600	Weak transcription	Lung	lung
10	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
11	chr17:45610000-45676800	Weak transcription	Ovary	ovary
12	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:45610400-45623400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:45610400-45624600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:45610400-45647600	Weak transcription	Osteobl	bone
23	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
24	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:45610600-45623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:45610600-45623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:45610600-45623400	Weak transcription	Fetal Intestine Large	intestine
28	chr17:45610600-45624000	Weak transcription	Fetal Stomach	stomach
29	chr17:45610600-45624000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr17:45610600-45624600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:45610600-45626400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:45610600-45626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:45610600-45647000	Weak transcription	Dnd41	blood
36	chr17:45610600-45662200	Weak transcription	HSMM	muscle
37	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:45610800-45623400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:45610800-45624600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:45610800-45669000	Weak transcription	NH-A	brain
42	chr17:45611000-45623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:45611200-45629600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
46	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
47	chr17:45611400-45624400	Weak transcription	A549	lung
48	chr17:45611400-45627200	Weak transcription	GM12878-XiMat	blood
49	chr17:45611600-45623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:45611600-45623600	Weak transcription	HepG2	liver

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