Variant report

Variant	rs545993603
Chromosome Location	chr12:51476861-51476862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
2	chr12:51397752..51401111-chr12:51474159..51477147,3	MCF-7	breast:
3	chr12:51476737..51477475-chr9:115512516..115513185,2	Hela-S3	cervix:
4	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
5	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
6	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
7	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
8	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
9	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:
10	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
11	chr12:51476081..51477615-chr12:51555734..51558069,2	MCF-7	breast:
12	chr1:144533622..144534350-chr12:51476813..51477576,2	Hela-S3	cervix:
13	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
14	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:
15	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
16	chr12:51475968..51477695-chr12:51663580..51665438,2	MCF-7	breast:
17	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
18	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
19	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
20	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:
21	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
22	chr12:51442002..51442637-chr12:51476673..51477253,2	Hela-S3	cervix:
23	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
24	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
25	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
26	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
27	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
28	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
29	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
30	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
31	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
32	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
33	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
34	chr12:51476711..51478527-chr15:22832264..22834283,2	MCF-7	breast:
35	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
36	chr12:51476647..51477383-chr15:59396869..59397844,2	Hela-S3	cervix:
37	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
38	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
39	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
40	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
41	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
42	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:
43	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
44	chr12:51476770..51477633-chr13:47127114..47127785,2	MCF-7	breast:
45	chr11:77790644..77791449-chr12:51476800..51477446,2	NB4	blood:
46	chr12:51440852..51445521-chr12:51475730..51478507,6	MCF-7	breast:
47	chr12:51440588..51444188-chr12:51475774..51478819,7	K562	blood:
48	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
49	chr12:51440588..51444188-chr12:51475693..51478745,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130675	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000259112	Chromatin interaction
ENSG00000226609	Chromatin interaction
ENSG00000199903	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000153575	Chromatin interaction
ENSG00000136141	Chromatin interaction
ENSG00000151366	Chromatin interaction
ENSG00000148158	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000244540	Chromatin interaction
ENSG00000257246	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	esv3410020	chr12:51475910-51478458	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51475400-51477600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:51475600-51477000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr12:51475600-51477000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:51475600-51477800	Active TSS	HSMM	muscle
5	chr12:51475600-51478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:51475800-51477000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr12:51475800-51477000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:51475800-51477600	Active TSS	Fetal Muscle Trunk	muscle
9	chr12:51476000-51477000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:51476000-51477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51476000-51477000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:51476000-51477200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:51476000-51477600	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:51476000-51477800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:51476000-51477800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:51476000-51477800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:51476000-51477800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:51476200-51477000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr12:51476200-51477000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:51476200-51477000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:51476200-51477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:51476200-51477000	ZNF genes & repeats	Fetal Brain Male	brain
23	chr12:51476200-51477200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:51476200-51477200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:51476200-51477400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:51476200-51477600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:51476200-51477600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:51476200-51477600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:51476200-51477600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:51476200-51477600	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:51476200-51477600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:51476200-51477600	Active TSS	Fetal Brain Female	brain
33	chr12:51476200-51477600	Active TSS	Fetal Intestine Small	intestine
34	chr12:51476200-51477800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:51476200-51477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:51476200-51477800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:51476200-51477800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:51476200-51477800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:51476200-51477800	Active TSS	Aorta	Aorta
40	chr12:51476200-51477800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:51476200-51477800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:51476200-51477800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:51476200-51477800	Active TSS	Ovary	ovary
44	chr12:51476200-51477800	Active TSS	Pancreas	Pancrea
45	chr12:51476200-51477800	Active TSS	HSMMtube	muscle
46	chr12:51476200-51477800	Active TSS	NHDF-Ad	bronchial
47	chr12:51476200-51477800	Active TSS	NHLF	lung
48	chr12:51476200-51478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:51476400-51477000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr12:51476400-51477400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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