Variant report

Variant	rs4129653
Chromosome Location	chr8:10534505-10534506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10516980..10519109-chr8:10534324..10536494,2	K562	blood:
2	chr8:10533955..10536464-chr8:10664070..10665725,2	K562	blood:
3	chr8:10527187..10529394-chr8:10534040..10536905,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10094634	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216539	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11250057	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11778725	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11986717	1.00[ASN][1000 genomes]
rs11997941	1.00[CHB][hapmap]
rs12543900	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12543903	0.90[EUR][1000 genomes]
rs13259547	1.00[CHB][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13267218	1.00[CEU][hapmap]
rs13275368	1.00[CHB][hapmap]
rs13280573	1.00[CHB][hapmap]
rs13281534	1.00[ASN][1000 genomes]
rs17152329	1.00[CHB][hapmap]
rs17152399	1.00[CHB][hapmap]
rs17152492	1.00[CHB][hapmap]
rs2409654	1.00[CHB][hapmap]
rs2409655	1.00[CHB][hapmap]
rs2409656	1.00[CHB][hapmap]
rs28375521	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463918	0.83[EUR][1000 genomes]
rs28665435	0.87[EUR][1000 genomes]
rs28754712	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898244	1.00[CHB][hapmap]
rs34043696	0.89[EUR][1000 genomes]
rs4620243	1.00[ASN][1000 genomes]
rs4840504	0.90[EUR][1000 genomes]
rs4841356	1.00[CHB][hapmap]
rs55782357	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829418	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60239832	1.00[ASN][1000 genomes]
rs6601494	1.00[ASN][1000 genomes]
rs6981249	1.00[ASN][1000 genomes]
rs6991320	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6993463	1.00[CHB][hapmap]
rs6993632	1.00[CHB][hapmap]
rs6993753	1.00[CHB][hapmap]
rs7005389	1.00[CHB][hapmap]
rs7014997	0.83[CEU][hapmap]
rs7018069	1.00[ASN][1000 genomes]
rs73200708	1.00[ASN][1000 genomes]
rs73200714	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662878	1.00[ASN][1000 genomes]
rs7463228	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7813417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815184	0.85[CEU][hapmap]
rs7822821	1.00[CHB][hapmap]
rs7824878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833599	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7838734	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap]
rs7844511	1.00[ASN][1000 genomes]
rs7845069	1.00[ASN][1000 genomes]
rs891557	1.00[CHB][hapmap]
rs934325	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10526800-10537600	Weak transcription	Gastric	stomach
2	chr8:10530600-10536800	Weak transcription	Spleen	Spleen
3	chr8:10530800-10537200	Weak transcription	Lung	lung
4	chr8:10532800-10535800	Enhancers	K562	blood
5	chr8:10533200-10536200	Weak transcription	Hela-S3	cervix
6	chr8:10533200-10538200	Weak transcription	Pancreas	Pancrea
7	chr8:10534200-10534800	Enhancers	Esophagus	oesophagus
8	chr8:10534200-10534800	Enhancers	Stomach Mucosa	stomach
9	chr8:10534200-10534800	Bivalent Enhancer	HepG2	liver
10	chr8:10534200-10534800	Enhancers	HUVEC	blood vessel
11	chr8:10534400-10534800	Enhancers	NH-A	brain
12	chr8:10534400-10535600	Enhancers	A549	lung

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