Variant report

Variant	rs12134708
Chromosome Location	chr1:168874406-168874407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168874321..168876639-chr1:168878574..168880199,2	K562	blood:
2	chr1:168872791..168875183-chr1:168876465..168878195,2	MCF-7	breast:
3	chr1:168872513..168874576-chr1:168888387..168891154,2	MCF-7	breast:
4	chr1:168740071..168742084-chr1:168874294..168876430,2	MCF-7	breast:
5	chr1:168847706..168850516-chr1:168873676..168876740,3	MCF-7	breast:
6	chr1:168869501..168872065-chr1:168874291..168877182,3	MCF-7	breast:
7	chr1:168873646..168880836-chr1:169073615..169079308,19	MCF-7	breast:
8	chr1:168871569..168873454-chr1:168873688..168876243,2	MCF-7	breast:
9	chr1:168872707..168877840-chr1:169073874..169079301,15	MCF-7	breast:
10	chr1:168848598..168851382-chr1:168873241..168874804,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1028642	0.87[CHB][hapmap]
rs10489363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10489366	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919004	0.85[ASN][1000 genomes]
rs12131464	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12133503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12140895	0.85[ASN][1000 genomes]
rs12562255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407477	0.83[CHB][hapmap]
rs16861737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885555	0.80[ASN][1000 genomes]
rs2146205	0.87[CHB][hapmap];0.90[MEX][hapmap]
rs2419395	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41271661	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7518480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7537225	0.95[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168862400-168877000	Weak transcription	Fetal Heart	heart
2	chr1:168867000-168875600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168868400-168876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:168872800-168875000	Weak transcription	Pancreas	Pancrea
5	chr1:168872800-168875600	Weak transcription	Small Intestine	intestine
6	chr1:168872800-168875800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:168872800-168876600	Weak transcription	Esophagus	oesophagus
8	chr1:168873000-168875600	Weak transcription	HMEC	breast
9	chr1:168873000-168876000	Weak transcription	NHEK	skin
10	chr1:168873000-168876800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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