Variant report

Variant	rs2193721
Chromosome Location	chr12:47593516-47593517
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47588311..47590826-chr12:47591836..47593826,2	K562	blood:
2	chr12:47591897..47593925-chr12:47748862..47750420,2	K562	blood:
3	chr12:47591993..47593635-chr12:47593815..47595761,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10736032	0.81[AFR][1000 genomes]
rs10748465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748466	0.95[EUR][1000 genomes]
rs10881068	0.85[EUR][1000 genomes]
rs10881071	0.90[EUR][1000 genomes]
rs10881076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	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
2	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
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
3	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
5	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
10	chr12:47588600-47597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
12	chr12:47589400-47598400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:47589600-47597200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:47589600-47599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:47590200-47597600	Weak transcription	Primary T cells from cord blood	blood
16	chr12:47590600-47594800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:47591400-47597200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:47591600-47593800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:47591600-47594200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:47591600-47597600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:47591600-47598200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:47591800-47594800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:47592200-47595800	Weak transcription	A549	lung
24	chr12:47592400-47597800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:47593000-47594000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:47593200-47596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:47593400-47594800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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