Variant report

Variant	esv1849839
Chromosome Location	chr17:45622485-45627693
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	JUND	chr17:45622924-45623096	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:45623269-45623282	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:45623219-45623235	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45624671-45624826	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45624772-45624777	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:45623606-45623797	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:45624778-45624817	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 187 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs2317803	chr17:45622485-45622486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531913507	chr17:45622493-45622494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2317806	chr17:45622532-45622533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2317807	chr17:45622540-45622541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555544301	chr17:45622546-45622547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575296073	chr17:45622557-45622558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544713700	chr17:45622560-45622561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564389192	chr17:45622561-45622562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533450075	chr17:45622576-45622577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540659219	chr17:45622618-45622619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62073975	chr17:45622690-45622691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529654246	chr17:45622769-45622770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549658356	chr17:45622856-45622857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569438819	chr17:45622905-45622906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531785632	chr17:45622907-45622908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550668367	chr17:45622918-45622919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570490261	chr17:45622937-45622938	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539127847	chr17:45622955-45622956	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552587348	chr17:45622990-45622991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566088280	chr17:45623039-45623040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535362574	chr17:45623062-45623063	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555343467	chr17:45623112-45623113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376980132	chr17:45623135-45623136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141330890	chr17:45623162-45623163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2661193	chr17:45623165-45623166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537677393	chr17:45623206-45623207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557911929	chr17:45623240-45623241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578177730	chr17:45623278-45623279	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369570255	chr17:45623285-45623286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560492787	chr17:45623299-45623300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567220672	chr17:45623371-45623372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372434515	chr17:45623409-45623410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76589339	chr17:45623411-45623412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200025451	chr17:45623432-45623433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200936566	chr17:45623434-45623435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199801343	chr17:45623435-45623436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142773495	chr17:45623437-45623438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148357525	chr17:45623439-45623440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181591349	chr17:45623441-45623442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113405856	chr17:45623481-45623482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111641677	chr17:45623541-45623542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543328407	chr17:45623572-45623573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111560557	chr17:45623637-45623638	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563008067	chr17:45623658-45623659	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552480997	chr17:45623659-45623660	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186043643	chr17:45623663-45623664	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565125975	chr17:45623668-45623669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377469517	chr17:45623697-45623698	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs140722216	chr17:45623748-45623749	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10579242	chr17:45623865-45623866	Weak transcription 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:160 , 50 per page) page: 1 2 3 4

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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