Variant report

Variant	rs1112391
Chromosome Location	chr12:51475963-51475964
allele	C/T
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 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	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
4	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
5	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
6	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
7	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
8	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
9	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
10	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
11	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
12	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
13	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
14	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
15	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
16	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
17	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
18	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
19	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
20	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
21	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
22	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
23	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
24	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
25	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
26	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
27	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
28	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
29	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:
30	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
31	chr12:51440852..51445521-chr12:51475730..51478507,6	MCF-7	breast:
32	chr12:51440588..51444188-chr12:51475774..51478819,7	K562	blood:
33	chr12:51474899..51476446-chr12:51660512..51663496,2	K562	blood:
34	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
35	chr12:51440588..51444188-chr12:51475693..51478745,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244540	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000130675	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10876135	0.86[YRI][hapmap]
rs11169689	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169690	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11169691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169692	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11169696	0.82[YRI][hapmap]
rs17122760	0.84[CEU][hapmap]
rs2018022	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306732	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3190077	0.85[JPT][hapmap]
rs3751275	0.81[MEX][hapmap];0.84[TSI][hapmap]
rs55938119	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66781280	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7398021	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs970097	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51462000-51476400	Weak transcription	Gastric	stomach
3	chr12:51467400-51476200	Weak transcription	Colonic Mucosa	Colon
4	chr12:51468000-51476000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:51468000-51476400	Weak transcription	Esophagus	oesophagus
6	chr12:51468200-51476000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:51468400-51476000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:51470400-51476000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:51470400-51476400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:51470400-51476400	Weak transcription	Lung	lung
11	chr12:51471800-51476400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:51472000-51476000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51472000-51476000	Weak transcription	Aorta	Aorta
14	chr12:51472000-51476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:51472000-51476400	Weak transcription	Left Ventricle	heart
16	chr12:51474600-51476000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:51475200-51476000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:51475200-51476200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:51475200-51476200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:51475200-51476200	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:51475200-51476400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:51475200-51476800	Flanking Active TSS	Dnd41	blood
23	chr12:51475400-51476000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:51475400-51476000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:51475400-51476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:51475400-51476000	Enhancers	A549	lung
27	chr12:51475400-51476000	Enhancers	HepG2	liver
28	chr12:51475400-51476200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:51475400-51476200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51475400-51476200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:51475400-51476400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:51475400-51476400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51475400-51476400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:51475400-51476600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:51475400-51476600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:51475400-51476800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51475400-51477600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:51475600-51476000	Enhancers	Primary T cells from cord blood	blood
39	chr12:51475600-51476000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:51475600-51476000	Active TSS	Brain Angular Gyrus	brain
41	chr12:51475600-51476000	Flanking Active TSS	Fetal Brain Male	brain
42	chr12:51475600-51476200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:51475600-51476200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51475600-51476200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:51475600-51476200	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:51475600-51476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51475600-51476200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:51475600-51476200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:51475600-51476200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:51475600-51476200	Enhancers	Brain Substantia Nigra	brain

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