Variant report

Variant	rs2522269
Chromosome Location	chr12:47411863-47411864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47336941..47339479-chr12:47410671..47412614,2	MCF-7	breast:
2	chr12:47407713..47409880-chr12:47409894..47412537,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10785649	0.87[EUR][1000 genomes]
rs10881023	0.87[EUR][1000 genomes]
rs10881025	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183695	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11183699	0.82[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11183711	0.81[EUR][1000 genomes]
rs1989912	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2263492	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2522258	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2522263	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2522275	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2522277	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2711695	0.87[EUR][1000 genomes]
rs2711699	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2711702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34142537	0.87[AFR][1000 genomes]
rs4768769	0.87[EUR][1000 genomes]
rs7139072	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7305283	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7960974	0.87[AFR][1000 genomes]
rs7971310	0.82[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7972871	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7978006	0.87[EUR][1000 genomes]
rs7979771	0.87[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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47408600-47414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:47408800-47414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:47411000-47412600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:47411000-47412800	Enhancers	HMEC	breast
5	chr12:47411000-47413400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:47411000-47418200	Enhancers	NHEK	skin
7	chr12:47411200-47412000	Enhancers	HSMM	muscle
8	chr12:47411200-47412200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:47411200-47412200	Flanking Active TSS	A549	lung
10	chr12:47411200-47412600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47411200-47412600	Enhancers	Hela-S3	cervix
12	chr12:47411200-47417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:47411400-47412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:47411400-47412200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:47411400-47412200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:47411400-47412200	Enhancers	Osteobl	bone
17	chr12:47411600-47412000	Enhancers	NHDF-Ad	bronchial
18	chr12:47411600-47412200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:47411600-47412200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:47411600-47412200	Enhancers	NH-A	brain
21	chr12:47411600-47412400	Enhancers	NHLF	lung
22	chr12:47411600-47412600	Enhancers	HSMMtube	muscle
23	chr12:47411600-47412800	Enhancers	Esophagus	oesophagus
24	chr12:47411800-47412200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:47411800-47412200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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