Variant report

Variant	rs17021253
Chromosome Location	chr4:147144652-147144653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:147144395-147144665	GM12878	blood:	n/a	chr4:147144515-147144528 chr4:147144519-147144528 chr4:147144518-147144531
2	CTCF	chr4:147144580-147144730	GM12869	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250673	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10000860	0.93[EUR][1000 genomes]
rs10000861	0.93[EUR][1000 genomes]
rs10000865	0.93[EUR][1000 genomes]
rs10010356	0.81[EUR][1000 genomes]
rs10013229	0.93[EUR][1000 genomes]
rs10015161	0.93[EUR][1000 genomes]
rs10021707	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10028478	0.93[EUR][1000 genomes]
rs10029288	0.93[EUR][1000 genomes]
rs10029293	0.81[EUR][1000 genomes]
rs10031419	0.93[EUR][1000 genomes]
rs10519778	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs11931059	1.00[CEU][hapmap]
rs11932480	0.93[EUR][1000 genomes]
rs11936772	0.93[EUR][1000 genomes]
rs11946104	0.93[EUR][1000 genomes]
rs13435847	0.93[EUR][1000 genomes]
rs13435855	0.93[EUR][1000 genomes]
rs17021122	0.86[EUR][1000 genomes]
rs17021126	0.86[EUR][1000 genomes]
rs17021129	0.86[EUR][1000 genomes]
rs17021149	0.93[EUR][1000 genomes]
rs17021150	0.93[EUR][1000 genomes]
rs17021152	0.93[EUR][1000 genomes]
rs17021155	0.86[EUR][1000 genomes]
rs2082096	0.86[EUR][1000 genomes]
rs2115788	0.93[EUR][1000 genomes]
rs28438609	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28440804	0.86[EUR][1000 genomes]
rs28495089	0.93[EUR][1000 genomes]
rs28535638	0.93[EUR][1000 genomes]
rs28602879	0.93[EUR][1000 genomes]
rs28772704	0.93[EUR][1000 genomes]
rs28794473	0.93[EUR][1000 genomes]
rs28862630	0.93[EUR][1000 genomes]
rs60125851	0.86[EUR][1000 genomes]
rs60129600	0.86[EUR][1000 genomes]
rs6821054	0.86[EUR][1000 genomes]
rs6824434	0.86[EUR][1000 genomes]
rs6841212	0.86[EUR][1000 genomes]
rs6841228	0.86[EUR][1000 genomes]
rs6841426	0.86[EUR][1000 genomes]
rs6846309	0.86[EUR][1000 genomes]
rs6852939	0.86[EUR][1000 genomes]
rs7356451	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs7356484	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs73855513	1.00[ASN][1000 genomes]
rs7655300	0.93[EUR][1000 genomes]
rs7663853	0.93[EUR][1000 genomes]
rs7671076	0.93[EUR][1000 genomes]
rs7680354	0.93[EUR][1000 genomes]
rs7681269	0.93[EUR][1000 genomes]
rs7681704	0.93[EUR][1000 genomes]
rs7691151	0.93[EUR][1000 genomes]
rs7693341	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7698706	0.93[EUR][1000 genomes]
rs867775	0.86[EUR][1000 genomes]
rs883857	0.86[EUR][1000 genomes]
rs9284682	0.86[EUR][1000 genomes]
rs9308197	0.93[EUR][1000 genomes]
rs9308198	0.93[EUR][1000 genomes]
rs9884598	0.93[EUR][1000 genomes]
rs9992451	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997106	1.00[CEU][hapmap];0.85[TSI][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 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	chr4:147114000-147144800	Weak transcription	Gastric	stomach
2	chr4:147143800-147145800	Weak transcription	Right Ventricle	heart
3	chr4:147144200-147144800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:147144200-147145200	Weak transcription	NH-A	brain
5	chr4:147144400-147145600	Weak transcription	Ovary	ovary

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