Variant report

Variant	esv3391937
Chromosome Location	chr17:45640253-45644551
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	GABPA	chr17:45644138-45644279	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:45643226-45643654	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:45643323-45643505	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45643307-45643311	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45643953-45644100	MCF-7	breast:	n/a	n/a
6	POLR2A	chr17:45643310-45643539	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr17:45643508-45643520	MCF-7	breast:	n/a	n/a
8	POLR2A	chr17:45643919-45643927	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:45642991-45643120	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140885518	chr17:45640344-45640345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11387776	chr17:45640381-45640382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201468395	chr17:45640400-45640401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534231950	chr17:45640404-45640405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200576447	chr17:45640405-45640406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11871264	chr17:45640407-45640408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536498377	chr17:45640410-45640411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556346541	chr17:45640426-45640427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75189445	chr17:45640459-45640460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377066713	chr17:45640492-45640493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545177200	chr17:45640511-45640512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2611968	chr17:45640522-45640523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564242720	chr17:45640533-45640534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577658702	chr17:45640543-45640544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368845844	chr17:45640552-45640553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540272921	chr17:45640554-45640555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4102520	chr17:45640574-45640575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112814166	chr17:45640610-45640611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559848457	chr17:45640626-45640627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529212762	chr17:45640722-45640723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11079779	chr17:45640770-45640771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs562695718	chr17:45640794-45640795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112876124	chr17:45640795-45640796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111411515	chr17:45640820-45640821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531564401	chr17:45640879-45640880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182094027	chr17:45640910-45640911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533101833	chr17:45640915-45640916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5004907	chr17:45640941-45640942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5004906	chr17:45640981-45640982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571752460	chr17:45641006-45641007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534030380	chr17:45641022-45641023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5004904	chr17:45641063-45641064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs5004903	chr17:45641077-45641078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547770875	chr17:45641083-45641084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567505817	chr17:45641095-45641096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536562677	chr17:45641172-45641173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556410333	chr17:45641178-45641179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551250394	chr17:45641195-45641196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5004902	chr17:45641196-45641197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369019585	chr17:45641227-45641228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147494412	chr17:45641231-45641232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538888421	chr17:45641293-45641294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560319391	chr17:45641323-45641324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558884767	chr17:45641332-45641333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577674056	chr17:45641402-45641403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539909719	chr17:45641418-45641419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560110110	chr17:45641449-45641450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527663459	chr17:45641518-45641519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7210472	chr17:45641528-45641529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs62073984	chr17:45641532-45641533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45670600	Weak transcription	Lung	lung
2	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
3	chr17:45610000-45676800	Weak transcription	Ovary	ovary
4	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:45610400-45647600	Weak transcription	Osteobl	bone
9	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
10	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:45610600-45647000	Weak transcription	Dnd41	blood
13	chr17:45610600-45662200	Weak transcription	HSMM	muscle
14	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:45610800-45669000	Weak transcription	NH-A	brain
17	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:45611200-45647600	Weak transcription	HSMMtube	muscle
19	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
20	chr17:45616600-45674600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:45617000-45647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:45617000-45647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:45617600-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:45618000-45649200	Weak transcription	Right Ventricle	heart
25	chr17:45618600-45674600	Weak transcription	Fetal Brain Female	brain
26	chr17:45618800-45669200	Weak transcription	HUVEC	blood vessel
27	chr17:45619400-45667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:45619400-45668200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:45621800-45647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:45622000-45647600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:45622400-45653000	Weak transcription	Colonic Mucosa	Colon
32	chr17:45622800-45669000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:45623600-45671000	Weak transcription	Esophagus	oesophagus
34	chr17:45624200-45647000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:45625000-45641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:45625000-45647000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:45625000-45647000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:45625000-45647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:45625000-45668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:45625200-45644200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:45625200-45647000	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:45625200-45647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:45625200-45667200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr17:45625200-45670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:45625800-45647000	Weak transcription	Placenta	Placenta
46	chr17:45627000-45646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:45627000-45647000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:45627000-45649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:45629600-45667400	Weak transcription	Left Ventricle	heart
50	chr17:45629800-45673400	Weak transcription	K562	blood

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