Variant report

Variant	rs7812899
Chromosome Location	chr8:91009732-91009733
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90993740..90998676-chr8:91006200..91009964,9	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10098170	1.00[ASN][1000 genomes]
rs10099102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504886	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076559	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956407	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986818	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989543	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989795	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991697	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992856	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114835	1.00[ASN][1000 genomes]
rs13312839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312846	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805785	1.00[ASN][1000 genomes]
rs1805805	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376519	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28654557	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332188	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998280	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7017304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717873	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72550706	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741779	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821822	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831876	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837423	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972376	1.00[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91006000-91012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:91006200-91012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:91007600-91013200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:91008000-91012400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:91008000-91012400	Weak transcription	HepG2	liver
7	chr8:91008000-91012800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:91008200-91012800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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