Variant report

Variant	esv3396027
Chromosome Location	chr17:45630353-45634451
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	chr17:45632282-45632410	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr17:45633424-45633495	GM10248	blood:	n/a	n/a
3	IRF1	chr17:45632294-45632507	K562	blood:	n/a	n/a
4	JUND	chr17:45631930-45632322	A549	lung:	n/a	n/a
5	NR2F2	chr17:45633412-45633724	K562	blood:	n/a	n/a
6	NR3C1	chr17:45631885-45632399	A549	lung:	n/a	n/a
7	POLR2A	chr17:45632853-45633014	MCF-7	breast:	n/a	n/a
8	POLR2A	chr17:45632034-45632041	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45631886-45632454	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr17:45631487-45631492	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:45631954-45632294	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:45632886-45633018	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:45631993-45632307	Hela-S3	cervix:	n/a	n/a
14	RXRA	chr17:45632892-45633264	HepG2	liver:	n/a	n/a
15	SP1	chr17:45631808-45632504	A549	lung:	n/a	n/a
16	STAT3	chr17:45630724-45630884	MCF10A-Er-Src	breast:	n/a	n/a
17	TAF1	chr17:45632015-45632232	Hela-S3	cervix:	n/a	n/a
18	TAL1	chr17:45630859-45631054	K562	blood:	n/a	n/a
19	TEAD4	chr17:45630830-45631013	K562	blood:	n/a	n/a
20	USF1	chr17:45631910-45632436	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000206734	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112393322	chr17:45630363-45630364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113866680	chr17:45630374-45630375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111948706	chr17:45630380-45630381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141058999	chr17:45630420-45630421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568091483	chr17:45630444-45630445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569223228	chr17:45630454-45630455	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386797436	chr17:45630460-45630461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2611945	chr17:45630461-45630462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55687600	chr17:45630497-45630498	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs570075631	chr17:45630504-45630505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539354184	chr17:45630508-45630509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2611944	chr17:45630518-45630519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370098433	chr17:45630547-45630548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28483638	chr17:45630554-45630555	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535327997	chr17:45630562-45630563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555531869	chr17:45630576-45630577	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575698503	chr17:45630612-45630613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544673096	chr17:45630619-45630620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564482710	chr17:45630632-45630633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578046509	chr17:45630695-45630696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540949358	chr17:45630718-45630719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560649775	chr17:45630770-45630771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150289819	chr17:45630783-45630784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563225690	chr17:45630794-45630795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530670201	chr17:45630842-45630843	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549351535	chr17:45630847-45630848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552292606	chr17:45630865-45630866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2611943	chr17:45630880-45630881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563093608	chr17:45630883-45630884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530523507	chr17:45630903-45630904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550219074	chr17:45630907-45630908	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570125905	chr17:45630915-45630916	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs137922380	chr17:45630926-45630927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546176477	chr17:45630933-45630934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374321204	chr17:45630961-45630962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566696106	chr17:45630967-45630968	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535739522	chr17:45631080-45631081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112805172	chr17:45631115-45631116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200702782	chr17:45631126-45631127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377424568	chr17:45631127-45631128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112541864	chr17:45631130-45631131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368727155	chr17:45631145-45631146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112909823	chr17:45631180-45631181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575356861	chr17:45631195-45631196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112667195	chr17:45631198-45631199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570692553	chr17:45631258-45631259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538358891	chr17:45631266-45631267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113512462	chr17:45631277-45631278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558256124	chr17:45631306-45631307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77223058	chr17:45631317-45631318	Weak transcription ZNF genes & repeats Strong 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:45610000-45670600	Weak transcription	Lung	lung
4	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
5	chr17:45610000-45676800	Weak transcription	Ovary	ovary
6	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:45610400-45647600	Weak transcription	Osteobl	bone
15	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:45610600-45647000	Weak transcription	Dnd41	blood
20	chr17:45610600-45662200	Weak transcription	HSMM	muscle
21	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:45610800-45669000	Weak transcription	NH-A	brain
24	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
26	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
27	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45617400-45632200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45617600-45637200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
34	chr17:45618600-45637600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:45618600-45639000	Weak transcription	Brain Anterior Caudate	brain
36	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
37	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
38	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:45622000-45631000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr17:45622000-45637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
45	chr17:45622600-45637200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
48	chr17:45623800-45632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr17:45624200-45631400	Weak transcription	Spleen	Spleen
50	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum

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