Variant report

Variant	rs727458
Chromosome Location	chr2:12184884-12184885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12176844..12179370-chr2:12184810..12186635,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495586	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495587	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467999	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472261	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476424	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478956	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12479075	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13012119	1.00[ASN][1000 genomes]
rs13026386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027180	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029543	0.90[ASN][1000 genomes]
rs2119144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2380409	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34587335	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573038	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35763905	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35875804	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35921314	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971524	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4129333	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752546	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804172	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057816	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159518	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113775	1.00[ASN][1000 genomes]
rs62113776	1.00[ASN][1000 genomes]
rs7584364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12181400-12185000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr2:12181600-12193200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:12182200-12185000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:12182600-12189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:12182600-12189400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:12183200-12186800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:12183400-12185200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:12183600-12185000	Enhancers	Primary T cells from cord blood	blood
9	chr2:12183600-12187000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:12183600-12189400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:12183800-12185000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:12184000-12186600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:12184000-12187200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:12184200-12186000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:12184200-12190400	Weak transcription	K562	blood
16	chr2:12184400-12185600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:12184400-12185600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:12184400-12185800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:12184600-12185000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr2:12184600-12185600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:12184600-12185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:12184600-12185800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:12184600-12187000	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:12184800-12185000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:12184800-12185400	Enhancers	Dnd41	blood
26	chr2:12184800-12185600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:12184800-12185600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:12184800-12185600	Enhancers	Fetal Brain Female	brain
29	chr2:12184800-12185800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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