Variant report

Variant	rs11996992
Chromosome Location	chr8:130457736-130457737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130451014..130452708-chr8:130456649..130459238,2	K562	blood:
2	chr8:130450871..130455095-chr8:130457353..130461574,6	MCF-7	breast:
3	chr8:130438946..130441544-chr8:130456592..130459697,3	K562	blood:
4	chr8:130456549..130458693-chr8:130464674..130467504,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-3	chr8:130457499-130458098	NONHSAT129111

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10098856	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10102471	0.89[ASN][1000 genomes]
rs10103083	0.90[JPT][hapmap]
rs1030626	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10956479	0.89[ASN][1000 genomes]
rs1118872	0.85[JPT][hapmap]
rs1124682	0.90[JPT][hapmap]
rs11781179	0.89[ASN][1000 genomes]
rs12545968	0.85[JPT][hapmap]
rs12681076	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1368136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1465680	0.90[JPT][hapmap]
rs1594597	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2007003	0.84[JPT][hapmap]
rs2217589	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2395899	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4733707	0.90[JPT][hapmap]
rs6989293	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6989619	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6998642	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs744652	0.85[JPT][hapmap]
rs7837648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs891833	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs9969496	0.86[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	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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130448600-130458800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:130451400-130462000	Weak transcription	Thymus	Thymus
3	chr8:130452400-130458200	Weak transcription	Fetal Thymus	thymus
4	chr8:130452600-130457800	Weak transcription	Dnd41	blood
5	chr8:130454200-130458000	Strong transcription	K562	blood
6	chr8:130457400-130457800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:130457600-130457800	Enhancers	NHEK	skin

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