Variant report

Variant	rs12543046
Chromosome Location	chr8:103603809-103603810
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103596917..103599330-chr8:103603358..103606131,2	K562	blood:
2	chr8:103600722..103604474-chr8:103665946..103668547,4	K562	blood:
3	chr8:103370631..103372413-chr8:103602268..103605120,2	K562	blood:
4	chr8:103600383..103602340-chr8:103602430..103605144,3	K562	blood:
5	chr8:103603451..103607129-chr8:103658621..103661960,3	MCF-7	breast:
6	chr8:103248705..103250283-chr8:103601762..103604480,2	K562	blood:
7	chr8:103602251..103604724-chr8:103665946..103668457,4	K562	blood:
8	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
9	chr8:103600383..103602250-chr8:103602430..103605105,2	K562	blood:
10	chr8:103602402..103604318-chr8:103640333..103643151,2	K562	blood:
11	chr8:103602047..103604905-chr8:103607309..103609943,2	K562	blood:
12	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
13	chr8:103552849..103555582-chr8:103602690..103604723,2	K562	blood:
14	chr8:103423433..103425063-chr8:103603155..103605129,3	K562	blood:
15	chr8:103587589..103591283-chr8:103601784..103605142,3	MCF-7	breast:
16	chr8:103422259..103425163-chr8:103601854..103604896,4	K562	blood:
17	chr8:103600249..103606482-chr8:103817809..103824485,7	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12543008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869658	0.90[JPT][hapmap]
rs17186961	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2436929	0.80[MEX][hapmap]
rs4734648	0.81[JPT][hapmap]
rs6468836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468837	0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6468838	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6981007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017839	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs965661	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv3443513	chr8:103601176-103604074	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103598600-103604600	Weak transcription	Placenta	Placenta
4	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:103599000-103604600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:103601800-103604000	Enhancers	Fetal Lung	lung
7	chr8:103602400-103605000	Enhancers	Hela-S3	cervix
8	chr8:103602800-103604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:103603200-103604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:103603200-103608400	Weak transcription	Left Ventricle	heart
11	chr8:103603400-103612200	Weak transcription	Right Ventricle	heart
12	chr8:103603600-103604600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103603800-103604600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:103603800-103605200	Enhancers	K562	blood
15	chr8:103603800-103613000	Weak transcription	Right Atrium	heart

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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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