Variant report

Variant	rs12581208
Chromosome Location	chr12:51771641-51771642
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51766723..51770541-chr12:51770868..51773253,4	K562	blood:
2	chr12:51762201..51772634-chr12:51780037..51787148,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139629	Chromatin interaction
ENSG00000050438	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10783438	1.00[EUR][1000 genomes]
rs12578858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12579126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12579841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580621	1.00[EUR][1000 genomes]
rs12582216	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17860267	1.00[EUR][1000 genomes]
rs17860283	1.00[EUR][1000 genomes]
rs17860320	1.00[EUR][1000 genomes]
rs17860337	1.00[EUR][1000 genomes]
rs2067764	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741700	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3889974	1.00[EUR][1000 genomes]
rs58448629	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60044798	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61612083	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73309782	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73309783	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73309787	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73309789	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73309790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73309797	0.92[ASN][1000 genomes]
rs73311613	1.00[EUR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
2	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:51763600-51777400	Weak transcription	K562	blood
4	chr12:51764200-51772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:51764400-51777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:51765600-51772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:51765600-51773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:51765600-51783200	Weak transcription	Esophagus	oesophagus
9	chr12:51765800-51777400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr12:51765800-51781800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:51766000-51772400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:51766000-51772600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51766000-51772800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:51766000-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:51766000-51777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:51766000-51777000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:51766200-51775000	Weak transcription	HMEC	breast
18	chr12:51766200-51776600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:51766200-51777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:51766400-51774200	Strong transcription	NHEK	skin
21	chr12:51766400-51775200	Weak transcription	Fetal Kidney	kidney
22	chr12:51766400-51775200	Weak transcription	HSMM	muscle
23	chr12:51766400-51781800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:51766600-51775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:51766800-51773800	Strong transcription	Fetal Intestine Large	intestine
26	chr12:51766800-51775600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:51767000-51774000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:51767000-51775400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:51767200-51773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:51767200-51778000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:51767200-51778200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:51767400-51777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:51768000-51772400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:51768000-51774000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:51768000-51774000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:51768000-51774000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:51768000-51775600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:51768000-51778800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:51768200-51773800	Strong transcription	Brain Substantia Nigra	brain
40	chr12:51768200-51777400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:51768400-51775600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:51768600-51773400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:51768800-51772600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:51768800-51775200	Weak transcription	HSMMtube	muscle
45	chr12:51768800-51775600	Weak transcription	NH-A	brain
46	chr12:51768800-51781800	Weak transcription	Osteobl	bone
47	chr12:51769000-51776200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:51769000-51781400	Weak transcription	Placenta	Placenta
49	chr12:51769200-51771800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:51769200-51773400	Strong transcription	Primary B cells from cord blood	blood

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