Variant report

Variant	rs9291707
Chromosome Location	chr5:60476226-60476227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60456770..60459746-chr5:60476085..60478262,2	K562	blood:
2	chr5:60472131..60474051-chr5:60474315..60476494,2	K562	blood:
3	chr5:60475085..60478138-chr5:60478979..60482831,4	K562	blood:
4	chr5:60464303..60466155-chr5:60475802..60477971,2	K562	blood:
5	chr5:60464643..60466155-chr5:60475802..60478493,2	K562	blood:
6	chr5:60473979..60476884-chr5:60480404..60482643,2	MCF-7	breast:
7	chr5:60454738..60463245-chr5:60465333..60477980,25	K562	blood:
8	chr5:60472733..60477448-chr5:60625158..60628299,7	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFAF2-2	chr5:60476179-60476265	ENSG00000251279.1
2	lnc-NDUFAF2-2	chr5:60476179-60476280	NONHSAT101661
3	lnc-NDUFAF2-2	chr5:60476179-60476265	NR_109908

No data

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10052753	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10054247	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055076	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10069718	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10075959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744226	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745179	0.83[EUR][1000 genomes]
rs11745233	0.83[EUR][1000 genomes]
rs11745696	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11750566	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11949390	1.00[YRI][hapmap]
rs11954384	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13163684	0.93[EUR][1000 genomes]
rs13179814	1.00[YRI][hapmap]
rs13181515	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13181517	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13183007	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13183464	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13185516	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13186053	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13190305	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16878519	1.00[YRI][hapmap]
rs28409386	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34598	0.81[JPT][hapmap]
rs35185283	0.83[EUR][1000 genomes]
rs767634	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs7721603	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
2	chr5:60472800-60476600	Weak transcription	Right Atrium	heart
3	chr5:60473800-60476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:60474200-60476600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:60474200-60476800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:60474400-60476600	Weak transcription	GM12878-XiMat	blood
7	chr5:60476200-60476400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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