Variant report

Variant	rs933738
Chromosome Location	chr12:49943122-49943123
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49931658..49934528-chr12:49938714..49943333,4	MCF-7	breast:
2	chr12:49939604..49941296-chr12:49942002..49944105,2	K562	blood:
3	chr12:49936026..49937572-chr12:49942956..49945602,2	K562	blood:
4	chr12:49931274..49936005-chr12:49943051..49946094,6	K562	blood:
5	chr12:49758090..49762166-chr12:49940541..49945539,5	K562	blood:
6	chr12:49758090..49761584-chr12:49941577..49946568,5	K562	blood:
7	chr12:49939089..49944852-chr12:49945260..49949994,8	MCF-7	breast:
8	chr12:49740832..49741606-chr12:49942595..49943430,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135519	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11169063	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169065	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11169069	0.94[ASN][1000 genomes]
rs11169070	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11169073	0.94[ASN][1000 genomes]
rs11169076	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11169080	0.84[ASN][1000 genomes]
rs11169081	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11169082	0.94[ASN][1000 genomes]
rs11169092	0.89[ASN][1000 genomes]
rs11169097	0.89[ASN][1000 genomes]
rs11833411	0.89[ASN][1000 genomes]
rs12299505	0.89[ASN][1000 genomes]
rs12299513	0.89[ASN][1000 genomes]
rs12311527	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12311839	0.94[ASN][1000 genomes]
rs12314878	0.94[ASN][1000 genomes]
rs12320556	0.94[ASN][1000 genomes]
rs12321819	0.94[ASN][1000 genomes]
rs13066	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13906	0.94[ASN][1000 genomes]
rs17123808	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1902329	0.89[ASN][1000 genomes]
rs1902330	0.89[ASN][1000 genomes]
rs2005195	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2241418	0.94[ASN][1000 genomes]
rs2278068	0.94[ASN][1000 genomes]
rs2278069	0.94[ASN][1000 genomes]
rs2278070	0.92[ASN][1000 genomes]
rs2303305	0.92[ASN][1000 genomes]
rs3815832	0.94[ASN][1000 genomes]
rs3887727	0.84[ASN][1000 genomes]
rs3887728	0.94[ASN][1000 genomes]
rs4045193	0.89[ASN][1000 genomes]
rs52824916	0.92[ASN][1000 genomes]
rs55853522	0.94[ASN][1000 genomes]
rs57916875	0.92[ASN][1000 genomes]
rs58278271	0.86[ASN][1000 genomes]
rs59940006	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7131915	0.94[ASN][1000 genomes]
rs7132792	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7296281	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7301209	0.94[ASN][1000 genomes]
rs73305008	0.94[ASN][1000 genomes]
rs73305012	0.94[ASN][1000 genomes]
rs7952938	0.81[ASN][1000 genomes]
rs7953911	0.94[ASN][1000 genomes]
rs7965658	0.92[ASN][1000 genomes]
rs7970241	0.94[ASN][1000 genomes]
rs7973389	0.94[ASN][1000 genomes]
rs7975599	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7977389	0.94[ASN][1000 genomes]
rs7979285	0.84[ASN][1000 genomes]
rs876889	0.92[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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49942000-49943400	Enhancers	Lung	lung
2	chr12:49942000-49943600	Enhancers	Fetal Heart	heart
3	chr12:49942200-49943200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
4	chr12:49942200-49943600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:49942200-49943600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:49942200-49943600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr12:49942200-49943800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
9	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
13	chr12:49942400-49943200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr12:49942400-49943400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr12:49942400-49943400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr12:49942400-49943400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr12:49942400-49943400	Flanking Active TSS	Ovary	ovary
24	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
25	chr12:49942400-49943400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr12:49942400-49943600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr12:49942400-49943600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:49942400-49943600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr12:49942400-49943600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr12:49942400-49943600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr12:49942400-49943600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr12:49942400-49943800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr12:49942600-49943200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:49942600-49943200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:49942600-49943200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:49942600-49943200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:49942600-49943200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr12:49942600-49943200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:49942600-49943200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:49942600-49943200	Active TSS	Aorta	Aorta
41	chr12:49942600-49943200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr12:49942600-49943200	Active TSS	Psoas Muscle	Psoas
43	chr12:49942600-49943200	Flanking Bivalent TSS/Enh	Osteobl	bone
44	chr12:49942600-49943400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:49942600-49943400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:49942600-49943400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr12:49942600-49943400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:49942600-49943400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr12:49942600-49943400	Flanking Active TSS	Left Ventricle	heart
50	chr12:49942600-49943400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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