Variant report

Variant	rs17185550
Chromosome Location	chr4:130050718-130050719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130049467..130051286-chr4:130053032..130055876,2	K562	blood:
2	chr4:130049431..130052409-chr4:130054376..130057821,3	K562	blood:
3	chr4:130036050..130038012-chr4:130049891..130052657,2	K562	blood:
4	chr4:130013482..130015163-chr4:130049568..130051318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251345	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000151466	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1030830	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10494317	0.81[CHB][hapmap]
rs12500341	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12500557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12503465	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12504200	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12505207	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12512345	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12512846	0.86[ASN][1000 genomes]
rs17185620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17416188	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs17416706	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1757936	0.89[YRI][hapmap]
rs1877836	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1900397	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2044523	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs280594	0.90[YRI][hapmap]
rs3113489	0.82[YRI][hapmap]
rs3113490	0.82[YRI][hapmap]
rs337263	0.86[YRI][hapmap]
rs35162842	0.86[ASN][1000 genomes]
rs389376	0.86[YRI][hapmap]
rs395864	0.81[YRI][hapmap]
rs4423892	0.85[JPT][hapmap]
rs4533782	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4635829	0.84[ASN][1000 genomes]
rs4975191	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4975294	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4975302	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975303	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4975305	0.87[ASN][1000 genomes]
rs6835359	0.85[JPT][hapmap]
rs6838427	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6840353	0.85[JPT][hapmap]
rs6847784	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs72685402	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72687104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7671508	0.89[YRI][hapmap]
rs789982	0.81[YRI][hapmap]
rs921375	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs921377	0.86[CHB][hapmap];0.95[JPT][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130032400-130052200	Weak transcription	Aorta	Aorta

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