Variant report

Variant	rs6486787
Chromosome Location	chr12:122066988-122066989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122014421..122021664-chr12:122061311..122067896,12	MCF-7	breast:
2	chr12:122046689..122049381-chr12:122065131..122067793,3	K562	blood:
3	chr12:121985158..121989788-chr12:122063533..122067478,5	K562	blood:
4	chr12:122065145..122067836-chr12:122450179..122451724,2	K562	blood:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10770190	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11502393	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11610515	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12300327	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313273	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12319775	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35989686	0.83[EUR][1000 genomes]
rs3741595	0.83[AMR][1000 genomes]
rs4760125	0.83[AMR][1000 genomes]
rs59988934	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6486776	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6486795	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313601	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73227920	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227933	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7398511	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122064200-122067200	Active TSS	GM12878-XiMat	blood
2	chr12:122065000-122068400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:122065200-122067000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:122065200-122067800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:122065200-122068000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122065400-122067200	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
8	chr12:122065600-122068600	Weak transcription	Ovary	ovary
9	chr12:122065600-122069600	Enhancers	Spleen	Spleen
10	chr12:122065600-122071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:122065800-122067800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr12:122065800-122067800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:122065800-122068000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:122065800-122068000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:122065800-122068200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr12:122065800-122068200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr12:122065800-122068200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:122065800-122069400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr12:122066000-122067800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:122066000-122068000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:122066000-122068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
23	chr12:122066200-122067000	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:122066200-122067400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:122066200-122067400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:122066200-122067800	Enhancers	Fetal Kidney	kidney
27	chr12:122066200-122067800	Enhancers	Pancreas	Pancrea
28	chr12:122066200-122068000	Enhancers	Stomach Mucosa	stomach
29	chr12:122066200-122068200	Enhancers	HMEC	breast
30	chr12:122066200-122069400	Enhancers	Right Ventricle	heart
31	chr12:122066200-122069400	Enhancers	NHDF-Ad	bronchial
32	chr12:122066200-122070000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:122066200-122071400	Enhancers	Placenta	Placenta
34	chr12:122066200-122071400	Enhancers	Lung	lung
35	chr12:122066200-122071600	Enhancers	Liver	Liver
36	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:122066400-122067000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr12:122066400-122067400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:122066400-122067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:122066400-122067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:122066400-122067400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:122066400-122067400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:122066400-122067400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:122066400-122067400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:122066400-122067400	Weak transcription	Gastric	stomach
46	chr12:122066400-122067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122066400-122068000	Enhancers	Colonic Mucosa	Colon
48	chr12:122066400-122068000	Enhancers	Left Ventricle	heart
49	chr12:122066400-122068000	Enhancers	NH-A	brain
50	chr12:122066400-122068000	Enhancers	Osteobl	bone

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