Variant report

Variant	rs60808917
Chromosome Location	chr12:49926216-49926217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49924771..49927060-chr12:49927264..49929041,2	K562	blood:
2	chr12:49923572..49927432-chr12:49929998..49933415,4	K562	blood:
3	chr12:49921630..49924042-chr12:49926070..49928576,2	K562	blood:
4	chr12:49925851..49930721-chr12:49933231..49936704,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135519	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10160947	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10161131	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10875955	0.82[AMR][1000 genomes]
rs11169015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169016	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169017	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169027	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11169048	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169049	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611743	0.83[EUR][1000 genomes]
rs12296440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299282	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12300817	1.00[ASN][1000 genomes]
rs12301632	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12305716	1.00[ASN][1000 genomes]
rs12306118	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12306212	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12306645	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12309053	1.00[ASN][1000 genomes]
rs12314428	1.00[ASN][1000 genomes]
rs12315996	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316170	1.00[ASN][1000 genomes]
rs12318633	1.00[ASN][1000 genomes]
rs12320284	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12322561	1.00[ASN][1000 genomes]
rs12322571	1.00[ASN][1000 genomes]
rs2272478	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57200170	1.00[ASN][1000 genomes]
rs57601151	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58125498	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6580709	0.82[EUR][1000 genomes]
rs7132684	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7139061	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7294648	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294973	1.00[ASN][1000 genomes]
rs73297209	0.83[EUR][1000 genomes]
rs73301240	1.00[ASN][1000 genomes]
rs73301259	1.00[ASN][1000 genomes]
rs7955541	0.82[EUR][1000 genomes]
rs7962951	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7969010	0.83[EUR][1000 genomes]
rs7969099	0.83[EUR][1000 genomes]
rs7975712	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7976165	1.00[ASN][1000 genomes]
rs9919739	0.83[ASN][1000 genomes]
rs9919740	0.83[ASN][1000 genomes]
rs9919807	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49888800-49927800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:49905200-49927000	Weak transcription	Fetal Heart	heart
3	chr12:49912600-49926400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:49914400-49931400	Weak transcription	Pancreas	Pancrea
5	chr12:49916400-49931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:49916800-49927200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:49917600-49931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:49920000-49928800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:49920000-49931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:49920200-49927400	Weak transcription	HepG2	liver
11	chr12:49920200-49928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49920200-49929600	Weak transcription	HMEC	breast
13	chr12:49920200-49931400	Weak transcription	Brain Anterior Caudate	brain
14	chr12:49920400-49929600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:49920400-49930000	Weak transcription	Brain Substantia Nigra	brain
16	chr12:49920600-49926600	Weak transcription	Fetal Thymus	thymus
17	chr12:49920600-49926600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:49920600-49931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:49920600-49931400	Weak transcription	Spleen	Spleen
20	chr12:49920800-49929600	Weak transcription	Fetal Brain Female	brain
21	chr12:49921200-49929600	Weak transcription	Placenta	Placenta
22	chr12:49921400-49927200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:49921600-49926400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:49921800-49926400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:49921800-49926600	Weak transcription	Gastric	stomach
26	chr12:49921800-49926800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49921800-49927200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:49921800-49928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:49921800-49928400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:49921800-49928600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:49921800-49928600	Weak transcription	Brain Germinal Matrix	brain
32	chr12:49921800-49928800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:49921800-49929600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:49921800-49930200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:49921800-49930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:49921800-49931200	Weak transcription	Right Ventricle	heart
37	chr12:49922000-49926800	Weak transcription	Dnd41	blood
38	chr12:49922000-49927600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:49922000-49928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:49922000-49928600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:49922000-49928600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:49922000-49928600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:49922000-49928600	Weak transcription	Fetal Intestine Large	intestine
44	chr12:49922000-49929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:49922000-49929600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:49922000-49929600	Weak transcription	Lung	lung
47	chr12:49922000-49929600	Weak transcription	HSMM	muscle
48	chr12:49922000-49929600	Weak transcription	NH-A	brain
49	chr12:49922000-49929600	Weak transcription	Osteobl	bone
50	chr12:49922000-49929800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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