Variant report

Variant	rs1490188
Chromosome Location	chr1:151985662-151985663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151964978..151966763-chr1:151984621..151987442,2	K562	blood:
2	chr1:151857351..151860092-chr1:151985508..151987866,2	MCF-7	breast:
3	chr1:151880783..151882439-chr1:151984923..151987759,2	MCF-7	breast:
4	chr1:151978814..151981429-chr1:151985476..151987794,2	K562	blood:
5	chr1:151881612..151883127-chr1:151984846..151987615,2	MCF-7	breast:
6	chr1:151906193..151906890-chr1:151985331..151986972,5	MCF-7	breast:
7	chr1:151861451..151862101-chr1:151985405..151986706,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11204923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387834	0.81[ASN][1000 genomes]
rs1387835	0.85[ASN][1000 genomes]
rs1473493	0.81[ASN][1000 genomes]
rs1473495	0.81[ASN][1000 genomes]
rs1532132	0.81[ASN][1000 genomes]
rs1552607	0.81[ASN][1000 genomes]
rs1602252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1602254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873311	0.81[ASN][1000 genomes]
rs1967084	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1967085	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2338018	0.81[ASN][1000 genomes]
rs2932567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932572	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932588	0.81[ASN][1000 genomes]
rs2932591	0.81[ASN][1000 genomes]
rs2932592	0.81[ASN][1000 genomes]
rs2932595	0.81[ASN][1000 genomes]
rs2932596	0.81[ASN][1000 genomes]
rs2932597	0.81[ASN][1000 genomes]
rs2999514	0.81[ASN][1000 genomes]
rs2999515	0.81[ASN][1000 genomes]
rs2999518	0.81[ASN][1000 genomes]
rs2999520	0.81[ASN][1000 genomes]
rs2999522	0.81[ASN][1000 genomes]
rs2999524	0.81[ASN][1000 genomes]
rs2999525	0.81[ASN][1000 genomes]
rs2999527	0.81[ASN][1000 genomes]
rs2999529	0.81[ASN][1000 genomes]
rs2999535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999536	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2999537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999558	0.96[ASN][1000 genomes]
rs3007701	0.81[ASN][1000 genomes]
rs3007713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3007714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704157	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs882100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151976800-151993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151977000-151986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:151984200-151986000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:151985200-151986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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