Variant report

Variant	rs2214335
Chromosome Location	chr12:47410871-47410872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47409237..47411552-chr12:47414622..47416468,2	K562	blood:
2	chr12:47409351..47411528-chr12:47417449..47418991,2	K562	blood:
3	chr12:47336941..47339479-chr12:47410671..47412614,2	MCF-7	breast:
4	chr12:47407713..47409880-chr12:47409894..47412537,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10736030	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10748457	0.90[EUR][1000 genomes]
rs10748458	0.90[EUR][1000 genomes]
rs10748460	0.89[EUR][1000 genomes]
rs10785650	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10785653	0.89[EUR][1000 genomes]
rs10881024	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10881026	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10881027	0.88[EUR][1000 genomes]
rs10881029	0.88[EUR][1000 genomes]
rs10881030	0.89[EUR][1000 genomes]
rs10881031	0.89[EUR][1000 genomes]
rs10881033	0.84[EUR][1000 genomes]
rs1557781	0.86[EUR][1000 genomes]
rs1859112	0.88[EUR][1000 genomes]
rs2158133	0.90[EUR][1000 genomes]
rs2408711	0.89[EUR][1000 genomes]
rs2711698	0.86[EUR][1000 genomes]
rs2711713	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7133990	0.88[EUR][1000 genomes]
rs7136412	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7139043	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7311552	0.88[EUR][1000 genomes]
rs757149	0.89[EUR][1000 genomes]
rs757150	0.89[EUR][1000 genomes]
rs7956056	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7956758	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958499	0.89[EUR][1000 genomes]
rs7961460	0.90[EUR][1000 genomes]
rs7976595	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8181633	0.89[EUR][1000 genomes]
rs886315	0.90[EUR][1000 genomes]
rs886317	0.90[EUR][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	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
4	nsv983436	chr12:47398417-47411538	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 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	chr12:47408800-47411000	Weak transcription	NHLF	lung
3	chr12:47408800-47411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:47408800-47411600	Weak transcription	NHDF-Ad	bronchial
5	chr12:47408800-47414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47409000-47411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:47409000-47411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:47409000-47411000	Weak transcription	HMEC	breast
9	chr12:47409000-47411000	Weak transcription	NHEK	skin
10	chr12:47409000-47411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47409000-47411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:47409000-47411200	Weak transcription	Hela-S3	cervix
13	chr12:47409000-47411200	Weak transcription	HSMM	muscle
14	chr12:47409000-47411400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47409000-47411400	Weak transcription	Osteobl	bone
16	chr12:47409000-47411600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:47409000-47411600	Weak transcription	NH-A	brain
18	chr12:47409200-47411200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:47409200-47411400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:47409600-47411000	Weak transcription	A549	lung
21	chr12:47409600-47411600	Weak transcription	HSMMtube	muscle

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