Variant report

Variant	rs12314138
Chromosome Location	chr12:118765908-118765909
allele	G/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	chr12:118760395..118762832-chr12:118765688..118768481,2	K562	blood:
2	chr12:118765603..118769564-chr12:118810838..118814625,4	K562	blood:
3	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
4	chr12:118763625..118770467-chr12:118808483..118814296,9	K562	blood:
5	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
6	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
7	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
8	chr12:118764873..118767351-chr12:118794759..118796919,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11068849	1.00[EUR][1000 genomes]
rs11068869	1.00[EUR][1000 genomes]
rs11068875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068890	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068894	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068929	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311104	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12318403	1.00[EUR][1000 genomes]
rs12319261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35214062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137739	0.83[AMR][1000 genomes]
rs7306323	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:118746600-118766600	Weak transcription	HSMM	muscle
10	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:118754600-118766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:118755800-118766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:118758400-118769000	Weak transcription	Pancreas	Pancrea
20	chr12:118759200-118766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:118760200-118768000	Weak transcription	NHEK	skin
22	chr12:118762000-118769000	Weak transcription	Fetal Thymus	thymus
23	chr12:118762200-118766600	Weak transcription	Fetal Stomach	stomach
24	chr12:118762600-118768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:118763000-118773800	Weak transcription	Dnd41	blood
26	chr12:118763400-118770800	Weak transcription	Thymus	Thymus
27	chr12:118763800-118769000	Weak transcription	Left Ventricle	heart
28	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:118764200-118766200	Enhancers	NHDF-Ad	bronchial
30	chr12:118764400-118766800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:118764400-118767000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:118764600-118767200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:118764800-118768000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:118764800-118769000	Enhancers	Osteobl	bone
35	chr12:118764800-118769200	Enhancers	Fetal Lung	lung
36	chr12:118764800-118769200	Enhancers	NHLF	lung
37	chr12:118765000-118766400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:118765000-118766600	Weak transcription	K562	blood
39	chr12:118765000-118767800	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:118765200-118766600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:118765200-118767800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:118765200-118773000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:118765400-118771000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:118765400-118771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:118765400-118771600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:118765600-118766000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:118765600-118768000	Enhancers	Primary B cells from cord blood	blood
48	chr12:118765800-118766000	Weak transcription	GM12878-XiMat	blood
49	chr12:118765800-118766400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:118765800-118766400	Weak transcription	Adipose Nuclei	Adipose

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