Variant report

Variant	rs10112452
Chromosome Location	chr8:130437539-130437540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130433486..130436461-chr8:130437244..130438809,2	K562	blood:
2	chr8:130324110..130326533-chr8:130436449..130439248,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087235	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090670	1.00[ASN][1000 genomes]
rs10094748	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104020	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10108893	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109055	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956474	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956476	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11506138	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990493	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335056	0.95[ASN][1000 genomes]
rs28463195	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599610	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28839778	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840106	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712576	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72712593	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714212	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714222	0.95[ASN][1000 genomes]
rs72714223	0.95[ASN][1000 genomes]
rs72714224	0.95[ASN][1000 genomes]
rs9297787	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297788	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643250	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656976	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3498936	chr8:130434070-130444018	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3498939	chr8:130434470-130444018	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3480631	chr8:130434987-130443051	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3480632	chr8:130435024-130443088	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3498937	chr8:130435065-130443077	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3498942	chr8:130435085-130443122	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3498938	chr8:130435102-130442996	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3498940	chr8:130435130-130442953	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3480633	chr8:130435190-130442879	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv499239	chr8:130435195-130442879	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv20800	chr8:130435196-130442658	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3498943	chr8:130435196-130442879	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130429400-130437600	Enhancers	Dnd41	blood
3	chr8:130434800-130443800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130436400-130443800	Weak transcription	Thymus	Thymus
5	chr8:130436600-130443800	Weak transcription	K562	blood

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