Variant report

Variant	esv3412205
Chromosome Location	chr1:154144489-154145637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154145253-154145297	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:154144636-154144926	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:154144472-154144579	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:154145331-154145358	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:154145389-154145591	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:154145287-154145664	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:154145379-154145545	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:154144925-154145399	K562	blood:	n/a	n/a
9	POLR2A	chr1:154143361-154144566	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:154144198-154145074	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:154143217-154145369	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:154145286-154145809	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:154145155-154145363	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:154145581-154145583	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:154145083-154145150	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:154145151-154145164	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:154145419-154145615	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:154143913-154145741	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:154145031-154145060	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:154144650-154145386	A549	lung:	n/a	n/a
21	POLR2A	chr1:154144477-154144581	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:154144918-154145146	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:154145379-154145386	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:154145372-154145407	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:154144361-154144822	GM12892	blood:	n/a	n/a
26	POLR2A	chr1:154145369-154145860	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:154145134-154146101	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr1:154145118-154145141	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:154145032-154145043	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:154145414-154145909	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr1:154145165-154145167	MCF-7	breast:	n/a	n/a
32	POLR2A	chr1:154145345-154145539	K562	blood:	n/a	n/a
33	POLR2A	chr1:154144976-154145030	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154135643..154140021-chr1:154145158..154148026,3	K562	blood:
2	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:
3	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
4	chr1:154142747..154146273-chr1:154146772..154152940,5	K562	blood:

No data

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000264384	chromatin interactions
ENSG00000143549	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200651639	chr1:154144520-154144521	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs114065129	chr1:154144535-154144536	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527339013	chr1:154144557-154144558	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11540125	chr1:154144573-154144574	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142738030	chr1:154144579-154144580	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372482205	chr1:154144583-154144584	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78201729	chr1:154144584-154144585	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551959810	chr1:154144598-154144599	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570542170	chr1:154144660-154144661	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34335016	chr1:154144681-154144682	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530925214	chr1:154144776-154144777	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549782960	chr1:154144782-154144783	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187916204	chr1:154144814-154144815	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149482728	chr1:154144840-154144841	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147176599	chr1:154144853-154144854	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200258420	chr1:154144891-154144892	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554164738	chr1:154144902-154144903	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115611001	chr1:154144938-154144939	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551124030	chr1:154144951-154144952	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537676032	chr1:154145093-154145094	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78833491	chr1:154145109-154145110	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs192698060	chr1:154145122-154145123	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567739008	chr1:154145159-154145160	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537782359	chr1:154145181-154145182	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs142806536	chr1:154145201-154145202	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs574247232	chr1:154145220-154145221	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184890351	chr1:154145273-154145274	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs116170320	chr1:154145274-154145275	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs111368844	chr1:154145366-154145367	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs146340719	chr1:154145388-154145389	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs202032313	chr1:154145395-154145396	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs199474716	chr1:154145429-154145430	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545488474	chr1:154145437-154145438	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs199474715	chr1:154145445-154145446	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs121964852	chr1:154145447-154145448	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs121964854	chr1:154145448-154145449	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs369837816	chr1:154145479-154145480	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs148485793	chr1:154145502-154145503	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs142720544	chr1:154145505-154145506	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200089715	chr1:154145506-154145507	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs150823943	chr1:154145527-154145528	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs376283495	chr1:154145528-154145529	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201535245	chr1:154145530-154145531	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs28372838	chr1:154145532-154145533	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150586027	chr1:154145572-154145573	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs199474714	chr1:154145589-154145590	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154126400-154146000	Strong transcription	HMEC	breast
2	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
3	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:154127200-154146000	Strong transcription	Fetal Brain Female	brain
5	chr1:154127400-154148200	Strong transcription	Liver	Liver
6	chr1:154127600-154148400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:154127800-154150000	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr1:154128000-154148400	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:154128000-154150400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:154128000-154150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:154128200-154150200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:154128200-154151200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:154128400-154146000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:154128400-154148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:154128600-154146000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:154128600-154148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:154129600-154145600	Strong transcription	HepG2	liver
18	chr1:154129600-154145600	Strong transcription	NHEK	skin
19	chr1:154129600-154149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:154129600-154150400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr1:154129800-154148200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:154130000-154148400	Strong transcription	HSMM	muscle
23	chr1:154130200-154145800	Strong transcription	Colonic Mucosa	Colon
24	chr1:154130200-154150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:154130600-154148000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:154130600-154148400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:154130600-154148400	Weak transcription	Right Atrium	heart
28	chr1:154130600-154149800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:154130600-154150000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:154130800-154148000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:154130800-154148600	Strong transcription	Osteobl	bone
32	chr1:154131000-154145800	Strong transcription	Hela-S3	cervix
33	chr1:154131400-154148400	Strong transcription	Lung	lung
34	chr1:154131600-154148000	Strong transcription	Primary B cells from cord blood	blood
35	chr1:154131600-154148400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:154131600-154148400	Strong transcription	Placenta	Placenta
37	chr1:154131600-154148800	Strong transcription	NH-A	brain
38	chr1:154131800-154148000	Strong transcription	Adipose Nuclei	Adipose
39	chr1:154131800-154148200	Strong transcription	HUVEC	blood vessel
40	chr1:154131800-154148400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:154132000-154145800	Strong transcription	NHLF	lung
42	chr1:154132000-154146000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:154132000-154148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:154132000-154148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:154132000-154148400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:154132200-154148200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:154132400-154148400	Strong transcription	Fetal Thymus	thymus
48	chr1:154132800-154148000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:154132800-154148200	Strong transcription	Fetal Intestine Small	intestine
50	chr1:154132800-154148400	Strong transcription	Fetal Stomach	stomach

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