Variant report

Variant	rs6999220
Chromosome Location	chr8:91871190-91871191
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	chr8:91866235..91867984-chr8:91868393..91871249,2	MCF-7	breast:
2	chr8:91656974..91659329-chr8:91869981..91872238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10092379	0.82[CHB][hapmap]
rs10113460	0.82[CHB][hapmap]
rs10490979	0.85[CHB][hapmap]
rs10504897	0.82[CHB][hapmap]
rs10504900	0.82[CHB][hapmap]
rs10504902	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1060583	0.85[CHB][hapmap];0.81[YRI][hapmap]
rs11994903	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs11997330	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs12114104	0.83[ASN][1000 genomes]
rs12114679	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs16905331	0.82[CHB][hapmap]
rs16905427	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs16905437	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs16905862	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs16907242	0.85[CHB][hapmap]
rs2202392	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs4389891	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs4443621	0.87[ASN][1000 genomes]
rs56201758	0.87[ASN][1000 genomes]
rs56216319	0.87[ASN][1000 genomes]
rs56834391	0.87[ASN][1000 genomes]
rs56895928	0.80[ASN][1000 genomes]
rs58037813	0.87[ASN][1000 genomes]
rs58942247	0.87[ASN][1000 genomes]
rs59416504	0.80[ASN][1000 genomes]
rs6471253	0.82[CHB][hapmap]
rs6651175	0.85[CHB][hapmap]
rs7006863	0.85[CHB][hapmap];0.81[YRI][hapmap]
rs7013400	0.82[CHB][hapmap]
rs7017072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295963	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313059	0.87[ASN][1000 genomes]
rs73313067	0.87[ASN][1000 genomes]
rs73313090	0.87[ASN][1000 genomes]
rs7815288	0.93[ASN][1000 genomes]
rs7815900	0.82[CHB][hapmap]
rs7818979	0.85[CHB][hapmap]
rs7838907	0.82[CHB][hapmap];0.87[ASN][1000 genomes]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 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	chr8:91863000-91880600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:91865600-91871400	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:91867200-91879200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:91870800-91871200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:91870800-91871400	Enhancers	HMEC	breast
6	chr8:91871000-91871200	Enhancers	Brain Cingulate Gyrus	brain

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