Variant report

Variant	esv1809970
Chromosome Location	chr17:45628335-45664846
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	chr17:45644646-45644894	Hela-S3	cervix:	n/a	chr17:45644788-45644801
2	CEBPB	chr17:45632282-45632410	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr17:45655360-45655510	K562	blood:	n/a	n/a
4	CTCF	chr17:45639756-45639890	Gliobla	brain:	n/a	n/a
5	CTCF	chr17:45639821-45639905	GM13977	blood:	n/a	n/a
6	CTCF	chr17:45639580-45639730	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr17:45633424-45633495	GM10248	blood:	n/a	n/a
8	CTCF	chr17:45639786-45639888	HepG2	liver:	n/a	n/a
9	CTCF	chr17:45639761-45639910	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:45655314-45655358	ProgFib	skin:	n/a	n/a
11	CTCF	chr17:45639620-45639770	GM12869	blood:	n/a	n/a
12	CTCF	chr17:45639791-45639953	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr17:45639939-45639941	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr17:45639620-45639770	HepG2	liver:	n/a	n/a
15	CTCF	chr17:45639841-45639902	LNCaP	prostate:	n/a	n/a
16	CTCF	chr17:45639466-45640016	A549	lung:	n/a	n/a
17	CTCF	chr17:45639640-45639790	HFF	foreskin:	n/a	n/a
18	CTCF	chr17:45639735-45639948	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:45639620-45639770	HEK293	kidney:	n/a	n/a
20	CTCF	chr17:45639794-45639931	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr17:45639800-45639917	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr17:45639608-45639654	GM19240	blood:	n/a	n/a
23	CTCF	chr17:45639768-45639951	GM12878	blood:	n/a	n/a
24	CTCF	chr17:45639819-45639881	GM10248	blood:	n/a	n/a
25	CTCF	chr17:45639691-45639984	K562	blood:	n/a	n/a
26	CTCF	chr17:45639350-45639422	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:45639761-45639816	ProgFib	skin:	n/a	n/a
28	CTCF	chr17:45639760-45639940	K562	blood:	n/a	n/a
29	CTCF	chr17:45639752-45639953	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr17:45639787-45639938	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr17:45639653-45639953	A549	lung:	n/a	n/a
32	CTCF	chr17:45639600-45639750	HAc	cerebellar:	n/a	n/a
33	FOS	chr17:45644661-45644829	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr17:45644631-45644985	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
35	FOS	chr17:45644633-45644906	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
36	FOS	chr17:45644661-45644875	MCF10A-Er-Src	breast:	n/a	chr17:45644839-45644846
37	FOXA1	chr17:45634879-45635200	HepG2	liver:	n/a	chr17:45634892-45634904 chr17:45635023-45635035
38	FOXA1	chr17:45656460-45656842	HepG2	liver:	n/a	n/a
39	FOXA1	chr17:45662911-45663083	T-47D	breast:	n/a	n/a
40	FOXA1	chr17:45659827-45660279	HepG2	liver:	n/a	n/a
41	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr17:45646248-45646557	K562	blood:	n/a	chr17:45646531-45646541 chr17:45646499-45646506
43	GTF2F1	chr17:45646465-45646488	K562	blood:	n/a	n/a
44	IRF1	chr17:45632294-45632507	K562	blood:	n/a	n/a
45	JUND	chr17:45634460-45634632	HepG2	liver:	n/a	n/a
46	JUND	chr17:45631930-45632322	A549	lung:	n/a	n/a
47	JUND	chr17:45652113-45652290	HepG2	liver:	n/a	n/a
48	MYC	chr17:45644792-45644893	MCF10A-Er-Src	breast:	n/a	n/a
49	NFIC	chr17:45646266-45646508	SK-N-SH	brain:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443
50	NFIC	chr17:45646280-45646624	ECC-1	luminal epithelium:	n/a	chr17:45646429-45646445 chr17:45646427-45646444 chr17:45646428-45646445 chr17:45646427-45646443

Variant related genes	Relation type
NPEPPS	TF binding region
ENSG00000206734	TF binding region

Extended variants
information (count: 1334 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534956360	chr17:45628390-45628391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370765473	chr17:45628434-45628435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559455665	chr17:45628448-45628449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528544710	chr17:45628469-45628470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548613021	chr17:45628470-45628471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568356529	chr17:45628478-45628479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552976332	chr17:45628510-45628511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531248230	chr17:45628540-45628541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550949015	chr17:45628606-45628607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571068658	chr17:45628664-45628665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77285039	chr17:45628693-45628694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568470242	chr17:45628702-45628703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2663780	chr17:45628716-45628717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189302709	chr17:45628732-45628733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553579666	chr17:45628923-45628924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2258333	chr17:45629067-45629068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534408504	chr17:45629089-45629090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554558555	chr17:45629131-45629132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574304380	chr17:45629262-45629263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543721948	chr17:45629281-45629282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556803070	chr17:45629282-45629283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75286346	chr17:45629332-45629333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376402330	chr17:45629347-45629348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs36043200	chr17:45629406-45629407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs545623140	chr17:45629451-45629452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559119530	chr17:45629475-45629476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528606222	chr17:45629479-45629480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201390739	chr17:45629571-45629572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541920163	chr17:45629610-45629611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562119372	chr17:45629621-45629622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111898422	chr17:45629623-45629624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530786511	chr17:45629644-45629645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181892196	chr17:45629657-45629658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2611946	chr17:45629659-45629660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571187653	chr17:45629666-45629667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144700782	chr17:45629672-45629673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186578027	chr17:45629676-45629677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547254767	chr17:45629691-45629692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567028272	chr17:45629705-45629706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138525826	chr17:45629707-45629708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141572956	chr17:45629708-45629709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568063840	chr17:45629713-45629714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191037110	chr17:45629719-45629720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556517874	chr17:45629765-45629766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181502853	chr17:45629816-45629817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545684693	chr17:45629845-45629846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144447948	chr17:45629847-45629848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112326336	chr17:45629855-45629856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191261356	chr17:45629877-45629878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186187271	chr17:45629909-45629910	Weak transcription Strong transcription Enhancers	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:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45630000	Weak transcription	Gastric	stomach
2	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45610000-45670600	Weak transcription	Lung	lung
5	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
6	chr17:45610000-45676800	Weak transcription	Ovary	ovary
7	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:45610400-45647600	Weak transcription	Osteobl	bone
16	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
17	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:45610600-45647000	Weak transcription	Dnd41	blood
21	chr17:45610600-45662200	Weak transcription	HSMM	muscle
22	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:45610800-45669000	Weak transcription	NH-A	brain
25	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:45611200-45629600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
28	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
29	chr17:45616000-45629400	Weak transcription	Left Ventricle	heart
30	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:45617400-45629400	Weak transcription	K562	blood
34	chr17:45617400-45632200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:45617600-45637200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
38	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
40	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
41	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
42	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:45620200-45629600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:45622000-45631000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
50	chr17:45622600-45637200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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