Variant report

Variant	rs12315982
Chromosome Location	chr12:118766828-118766829
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:
6	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
7	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
8	chr12:118754566..118756895-chr12:118766418..118769131,2	K562	blood:
9	chr12:118744025..118746291-chr12:118766645..118768402,2	K562	blood:
10	chr12:118764873..118767351-chr12:118794759..118796919,2	MCF-7	breast:
11	chr12:118766254..118768357-chr12:118781756..118783461,2	K562	blood:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10160871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10507287	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068877	1.00[TSI][hapmap]
rs11068890	1.00[TSI][hapmap]
rs11068895	1.00[TSI][hapmap]
rs12300544	1.00[TSI][hapmap]
rs12311160	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12319261	1.00[TSI][hapmap]
rs12320636	0.84[YRI][hapmap]
rs2062521	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56097381	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56818943	0.88[ASN][1000 genomes]
rs57261188	0.91[ASN][1000 genomes]
rs61388284	0.91[ASN][1000 genomes]
rs7134670	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137548	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137739	1.00[TSI][hapmap]
rs7296214	1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs7313514	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7967474	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7974361	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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:60 , 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	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:118758400-118769000	Weak transcription	Pancreas	Pancrea
14	chr12:118760200-118768000	Weak transcription	NHEK	skin
15	chr12:118762000-118769000	Weak transcription	Fetal Thymus	thymus
16	chr12:118762600-118768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:118763000-118773800	Weak transcription	Dnd41	blood
18	chr12:118763400-118770800	Weak transcription	Thymus	Thymus
19	chr12:118763800-118769000	Weak transcription	Left Ventricle	heart
20	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:118764400-118767000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:118764600-118767200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:118764800-118768000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:118764800-118769000	Enhancers	Osteobl	bone
25	chr12:118764800-118769200	Enhancers	Fetal Lung	lung
26	chr12:118764800-118769200	Enhancers	NHLF	lung
27	chr12:118765000-118767800	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:118765200-118767800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:118765200-118773000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:118765400-118771000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:118765400-118771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:118765400-118771600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:118765600-118768000	Enhancers	Primary B cells from cord blood	blood
34	chr12:118765800-118768200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:118765800-118770600	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:118766000-118767000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:118766200-118767000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:118766400-118767000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr12:118766400-118767000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:118766400-118767000	Enhancers	Adipose Nuclei	Adipose
41	chr12:118766400-118768200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:118766400-118769200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:118766600-118767000	Enhancers	Fetal Intestine Large	intestine
44	chr12:118766600-118767200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:118766600-118767600	Weak transcription	Liver	Liver
46	chr12:118766600-118767800	Enhancers	HSMM	muscle
47	chr12:118766600-118768400	Enhancers	Brain Substantia Nigra	brain
48	chr12:118766600-118768400	Enhancers	Fetal Stomach	stomach
49	chr12:118766600-118768800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:118766600-118770600	Enhancers	K562	blood

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