Variant report

Variant	rs6988195
Chromosome Location	chr8:67022909-67022910
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67020409..67023104-chr8:67024737..67027669,3	K562	blood:
2	chr8:67017659..67020444-chr8:67021463..67024144,2	K562	blood:
3	chr8:67018137..67023099-chr8:67024551..67027226,4	MCF-7	breast:
4	chr8:67013473..67015902-chr8:67022725..67024628,2	K562	blood:
5	chr8:67016508..67023104-chr8:67024672..67027865,9	K562	blood:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10092687	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.85[YRI][hapmap]
rs10095931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.84[YRI][hapmap]
rs10113208	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113415	0.91[CEU][hapmap]
rs11986216	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11986805	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.85[YRI][hapmap]
rs11997605	0.91[CEU][hapmap]
rs12334408	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264487	0.90[CEU][hapmap]
rs13266516	0.91[CEU][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932514	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17306183	1.00[CHB][hapmap]
rs17307227	1.00[CHB][hapmap]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CHB][hapmap]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3176921	0.84[YRI][hapmap]
rs4262310	0.91[CEU][hapmap]
rs4366069	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380923	1.00[CHB][hapmap]
rs4495409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495411	1.00[CHB][hapmap]
rs4496952	1.00[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs5030877	0.85[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap]
rs6472248	0.91[CEU][hapmap]
rs6472249	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs6472255	0.85[YRI][hapmap]
rs6472256	0.85[YRI][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6990624	0.85[YRI][hapmap]
rs6996265	0.85[YRI][hapmap]
rs6998761	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap]
rs7008359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.84[YRI][hapmap]
rs73246516	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7818902	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs7822243	0.84[YRI][hapmap]
rs7824630	0.91[CEU][hapmap]
rs7826464	0.85[YRI][hapmap]
rs7827531	0.91[CEU][hapmap]
rs7830926	0.86[AFR][1000 genomes]
rs7834423	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836993	1.00[CHB][hapmap]
rs7838500	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs7842707	0.84[YRI][hapmap]
rs7842761	0.84[YRI][hapmap]
rs7843077	0.83[CEU][hapmap]
rs7843605	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs7845334	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884839	0.91[CEU][hapmap]
rs9298110	0.91[CEU][hapmap]
rs9694082	0.84[YRI][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67018600-67024600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:67019600-67024600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:67020200-67023000	Weak transcription	HSMMtube	muscle
4	chr8:67020800-67024400	Weak transcription	K562	blood
5	chr8:67022800-67023000	Enhancers	HSMM	muscle

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