Variant report

Variant	rs1499055
Chromosome Location	chr3:155948619-155948620
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	CEBPB	chr3:155948088-155949063	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr3:155948033-155948646	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
KCNAB1-AS2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1120745	0.83[AMR][1000 genomes]
rs11713991	0.83[AMR][1000 genomes]
rs11915771	0.81[AMR][1000 genomes]
rs11915832	0.82[AMR][1000 genomes]
rs11922447	0.86[CEU][hapmap];0.80[AMR][1000 genomes]
rs1391889	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs1391890	0.81[AMR][1000 genomes]
rs1499051	0.81[AMR][1000 genomes]
rs1499056	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs1546229	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs17170	0.82[CEU][hapmap]
rs1909373	0.83[AMR][1000 genomes]
rs1909374	0.81[AMR][1000 genomes]
rs1909375	0.81[AMR][1000 genomes]
rs1909376	0.83[AMR][1000 genomes]
rs2017971	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4333049	0.83[AMR][1000 genomes]
rs4505650	0.82[AMR][1000 genomes]
rs4530487	0.81[AMR][1000 genomes]
rs4577423	0.82[CEU][hapmap]
rs4680239	0.82[CEU][hapmap]
rs4680244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680248	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4680249	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs6441042	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs6441050	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs6441051	0.80[AMR][1000 genomes]
rs6764861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788238	0.81[AMR][1000 genomes]
rs728382	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs7373565	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620808	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7633871	0.82[AMR][1000 genomes]
rs7634800	0.83[AMR][1000 genomes]
rs7638421	0.81[AMR][1000 genomes]
rs963226	0.92[CEU][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs963227	0.92[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9864967	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs9866991	0.83[CEU][hapmap];0.80[AMR][1000 genomes]

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	nsv592085	chr3:155827634-156012679	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155936600-155951000	Weak transcription	Aorta	Aorta
2	chr3:155942000-155951200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:155945800-155954400	Weak transcription	Pancreas	Pancrea
4	chr3:155948000-155949000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:155948000-155949000	Enhancers	NHEK	skin
6	chr3:155948200-155949000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:155948600-155948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:155948600-155948800	Bivalent Enhancer	HSMMtube	muscle

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