Variant report

Variant	rs6992140
Chromosome Location	chr8:105590874-105590875
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	chr8:105590457..105593310-chr8:105600135..105602594,4	K562	blood:
2	chr8:105590187..105593939-chr8:105599095..105602249,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10505059	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871756	1.00[AMR][1000 genomes]
rs16871785	1.00[AMR][1000 genomes]
rs4476984	1.00[AMR][1000 genomes]
rs4478539	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986610	1.00[AMR][1000 genomes]
rs6986854	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009354	1.00[AMR][1000 genomes]
rs7009946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010874	1.00[AMR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][1000 genomes]
rs9694695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105581600-105593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:105581600-105598600	Weak transcription	Osteobl	bone
3	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
4	chr8:105584600-105598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105588400-105598000	Weak transcription	Fetal Heart	heart
6	chr8:105589200-105595200	Weak transcription	K562	blood

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