Variant report

Variant	rs11250094
Chromosome Location	chr8:10802001-10802002
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	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10107145	0.88[CEU][hapmap]
rs11250092	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250093	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11250099	0.83[CEU][hapmap]
rs11776368	1.00[CHB][hapmap]
rs11777007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777034	0.84[ASN][1000 genomes]
rs11780501	0.84[ASN][1000 genomes]
rs11783247	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11783749	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990550	1.00[CHB][hapmap]
rs11993591	1.00[CHB][hapmap]
rs12542037	0.83[CEU][hapmap]
rs12546366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs12679529	0.80[EUR][1000 genomes]
rs13265197	1.00[JPT][hapmap]
rs2409692	1.00[CHB][hapmap]
rs34741518	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4240671	0.83[CEU][hapmap]
rs4240672	0.80[CEU][hapmap]
rs4240673	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4520127	1.00[CHB][hapmap]
rs4841457	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4841458	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841461	0.82[JPT][hapmap]
rs4841465	0.83[CEU][hapmap]
rs6984496	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985109	0.87[CEU][hapmap]
rs6988281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6992103	1.00[CHB][hapmap]
rs6997997	0.80[CEU][hapmap]
rs7005884	1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015168	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7016385	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7821826	0.80[CEU][hapmap]
rs7823296	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833435	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7837038	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv522127	chr8:10797831-10815515	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11250094	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11250094	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10795800-10805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
3	chr8:10800600-10803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10801600-10802600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:10801600-10802800	Enhancers	Fetal Heart	heart
6	chr8:10801800-10802400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10801800-10802600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10801800-10802600	Enhancers	HSMMtube	muscle
9	chr8:10801800-10802800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10801800-10802800	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:10802000-10802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:10802000-10802400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:10802000-10802600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10802000-10802600	Enhancers	Right Ventricle	heart
15	chr8:10802000-10802800	Enhancers	Left Ventricle	heart

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