Variant report

Variant	esv3419248
Chromosome Location	chr12:57904485-57908083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr12:57906435-57906779	K562	blood:	n/a	n/a
2	HMGN3	chr12:57906537-57906598	K562	blood:	n/a	n/a
3	POLR2A	chr12:57905091-57906031	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:57906259-57906915	K562	blood:	n/a	n/a
5	POLR2A	chr12:57905611-57905614	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:57905710-57906044	K562	blood:	n/a	n/a
7	POLR2A	chr12:57907173-57907621	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:57905272-57905678	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr12:57905599-57906093	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:57906642-57906799	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:57906309-57907646	K562	blood:	n/a	n/a
12	POLR2A	chr12:57907451-57907452	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:57904883-57907734	U87	brain:	n/a	n/a
14	POLR2A	chr12:57906612-57906630	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:57905677-57906001	HCT-116	colon:	n/a	n/a
16	POLR2A	chr12:57905925-57905965	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr12:57907069-57907453	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:57905685-57906148	K562	blood:	n/a	n/a
19	POLR2A	chr12:57907220-57907361	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:57907670-57907759	K562	blood:	n/a	n/a
21	POLR2A	chr12:57907066-57907443	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:57905070-57905437	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:57905816-57906051	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:57907023-57907387	K562	blood:	n/a	n/a
25	POLR2A	chr12:57907408-57907778	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr12:57905458-57906141	A549	lung:	n/a	n/a
27	POLR2A	chr12:57906433-57906886	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:57906383-57906822	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:57907239-57907256	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:57908046-57911654	U87	brain:	n/a	n/a
31	POLR2A	chr12:57905528-57906218	HCT-116	colon:	n/a	n/a
32	POLR2A	chr12:57906554-57906689	A549	lung:	n/a	n/a
33	POLR2A	chr12:57906384-57906896	GM12891	blood:	n/a	n/a
34	POLR2A	chr12:57904746-57904783	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:57905417-57906016	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:57905482-57906989	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:57905376-57905631	K562	blood:	n/a	n/a
38	POLR2A	chr12:57908014-57914558	U87	brain:	n/a	n/a
39	POLR2A	chr12:57906399-57906902	K562	blood:	n/a	n/a
40	POLR2A	chr12:57907062-57907978	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr12:57906992-57907600	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:57906353-57906894	K562	blood:	n/a	n/a
43	POLR2A	chr12:57905075-57906147	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:57906072-57906356	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr12:57904682-57904691	K562	blood:	n/a	n/a
46	POLR2A	chr12:57904506-57914962	K562	blood:	n/a	n/a
47	POLR2A	chr12:57905370-57907700	U87	brain:	n/a	n/a
48	POLR2A	chr12:57905715-57906857	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr12:57906438-57906713	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:57906229-57906885	GM12891	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
2	chr12:57896366..57901111-chr12:57901647..57907518,8	K562	blood:
3	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
4	chr12:57896988..57898909-chr12:57904285..57905938,2	MCF-7	breast:
5	chr12:57881369..57883611-chr12:57902104..57905410,4	MCF-7	breast:
6	chr12:57882180..57883907-chr12:57905478..57906996,2	MCF-7	breast:
7	chr12:57883464..57886138-chr12:57902032..57904531,3	K562	blood:
8	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
9	chr12:57907013..57909948-chr12:58087318..58089281,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD6-1	chr12:57907700-57908023	NONHSAT028928

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6758-3p	chr12:57906514-57906533	MIMAT0027417
hsa-miR-6758-5p	chr12:57906476-57906498	MIMAT0027416

No data

Variant related genes	Relation type
RNU6-594P	TF binding region
RN7SL312P	TF binding region
MARS	TF binding region
ENSG00000123329	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000135506	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575935631	chr12:57904494-57904495	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181026332	chr12:57904524-57904525	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs186258227	chr12:57904545-57904546	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs545131556	chr12:57904549-57904550	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs188852824	chr12:57904564-57904565	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs557584654	chr12:57904576-57904577	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs569358450	chr12:57904629-57904630	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs540063947	chr12:57904658-57904659	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs557924704	chr12:57904805-57904806	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs572628308	chr12:57904831-57904832	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs539926897	chr12:57904853-57904854	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs143037002	chr12:57904903-57904904	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs115111847	chr12:57904923-57904924	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs573555495	chr12:57904924-57904925	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs368042156	chr12:57904925-57904926	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs386376653	chr12:57904926-57904927	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs386376654	chr12:57904932-57904933	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs376761350	chr12:57904938-57904939	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs1871547	chr12:57904939-57904940	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs12371589	chr12:57904940-57904941	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs577851963	chr12:57904950-57904951	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs111515147	chr12:57904997-57904998	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs181555153	chr12:57905012-57905013	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540788963	chr12:57905013-57905014	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs115823928	chr12:57905022-57905023	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547087205	chr12:57905086-57905087	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371702301	chr12:57905125-57905126	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs151322683	chr12:57905133-57905134	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs140633197	chr12:57905162-57905163	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs371455640	chr12:57905184-57905185	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs145795336	chr12:57905211-57905212	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs375297028	chr12:57905229-57905230	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs569578559	chr12:57905285-57905286	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs12425095	chr12:57905286-57905287	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
35	rs138378324	chr12:57905293-57905294	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs566693218	chr12:57905314-57905315	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs747341	chr12:57905317-57905318	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200640639	chr12:57905322-57905323	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs573567618	chr12:57905346-57905347	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs747340	chr12:57905349-57905350	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs555884143	chr12:57905351-57905352	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs577897402	chr12:57905380-57905381	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545289939	chr12:57905383-57905384	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs747339	chr12:57905412-57905413	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370573824	chr12:57905434-57905435	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs572222997	chr12:57905448-57905449	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540738676	chr12:57905449-57905450	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs562248736	chr12:57905454-57905455	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529363413	chr12:57905466-57905467	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377436527	chr12:57905470-57905471	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
4	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
5	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
6	chr12:57892800-57908600	Weak transcription	Stomach Mucosa	stomach
7	chr12:57896200-57905400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:57896200-57905600	Weak transcription	NHDF-Ad	bronchial
9	chr12:57899000-57905200	Weak transcription	NHLF	lung
10	chr12:57899200-57905000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:57899600-57906400	Weak transcription	Small Intestine	intestine
12	chr12:57900000-57904600	Weak transcription	Right Ventricle	heart
13	chr12:57900000-57905000	Weak transcription	Gastric	stomach
14	chr12:57900000-57905200	Weak transcription	Colonic Mucosa	Colon
15	chr12:57900200-57905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57900200-57905600	Weak transcription	Esophagus	oesophagus
17	chr12:57900400-57904600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:57900400-57905000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:57900400-57905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:57900400-57905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:57900400-57905400	Weak transcription	Ovary	ovary
22	chr12:57900400-57905600	Weak transcription	Fetal Brain Male	brain
23	chr12:57900600-57904800	Weak transcription	Aorta	Aorta
24	chr12:57900600-57905000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:57900600-57905000	Weak transcription	Left Ventricle	heart
26	chr12:57900600-57905000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:57900600-57905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:57900600-57905200	Weak transcription	Brain Angular Gyrus	brain
29	chr12:57900600-57905200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:57900600-57905200	Weak transcription	Fetal Kidney	kidney
31	chr12:57900600-57905400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:57900600-57905800	Weak transcription	Psoas Muscle	Psoas
33	chr12:57900600-57912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:57900600-57912800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:57901600-57910600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:57901600-57911000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:57901600-57911800	Strong transcription	Lung	lung
38	chr12:57901800-57906800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:57901800-57911600	Strong transcription	Thymus	Thymus
40	chr12:57901800-57911800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:57901800-57911800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:57902000-57912400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:57902200-57909800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:57902200-57910000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:57902200-57910600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:57902200-57911600	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:57902200-57912000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:57902200-57912000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:57902200-57912400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr12:57902400-57910400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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