Variant report

Variant	rs12893999
Chromosome Location	chr14:105970842-105970843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105970442..105972262-chr14:105975317..105977252,2	MCF-7	breast:
2	chr14:105967019..105968917-chr14:105969216..105971948,3	K562	blood:
3	chr14:105968511..105971018-chr14:105977126..105978783,2	K562	blood:
4	chr14:105970823..105972342-chr14:105972988..105975832,2	K562	blood:
5	chr14:105969416..105971812-chr14:105972417..105975163,3	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10133083	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10136015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139744	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10147392	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152050	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11622603	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624007	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12100587	0.82[ASN][1000 genomes]
rs12101234	0.80[ASN][1000 genomes]
rs12717698	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13379293	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28402171	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28431397	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28620005	0.82[ASN][1000 genomes]
rs28662250	0.85[EUR][1000 genomes]
rs28719751	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28733392	0.84[EUR][1000 genomes]
rs34564731	0.90[EUR][1000 genomes]
rs35240373	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35471125	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35511437	0.91[EUR][1000 genomes]
rs35590487	0.86[EUR][1000 genomes]
rs35592422	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35723046	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35921705	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4074453	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4074937	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4075104	0.85[EUR][1000 genomes]
rs4075105	0.85[EUR][1000 genomes]
rs55958808	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56057552	0.84[ASN][1000 genomes]
rs56142547	0.91[ASN][1000 genomes]
rs58087925	0.94[EUR][1000 genomes]
rs66710832	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141834	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160747	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72713322	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713323	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73373742	0.82[ASN][1000 genomes]
rs8003942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013055	0.85[EUR][1000 genomes]
rs8013827	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014713	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014913	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021330	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105957800-105971800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:105958400-105973800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:105965600-105974400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:105970600-105971000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:105970600-105971000	Enhancers	Brain Substantia Nigra	brain
6	chr14:105970800-105971000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:105970800-105971000	Enhancers	Brain Anterior Caudate	brain
8	chr14:105970800-105971000	Enhancers	Fetal Brain Female	brain
9	chr14:105970800-105971000	Enhancers	Pancreas	Pancrea
10	chr14:105970800-105971000	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr14:105970800-105971200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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