Variant report

Variant	rs1496037
Chromosome Location	chr1:152062750-152062751
allele	A/G
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	STAT3	chr1:152062497-152062918	MCF10A-Er-Src	breast:	n/a	chr1:152062666-152062674 chr1:152062660-152062680 chr1:152062664-152062675 chr1:152062663-152062677 chr1:152062651-152062674 chr1:152062660-152062680
2	POLR2A	chr1:152062675-152062797	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:152062495-152062976	MCF10A-Er-Src	breast:	n/a	chr1:152062666-152062674 chr1:152062660-152062680 chr1:152062664-152062675 chr1:152062663-152062677 chr1:152062651-152062674 chr1:152062660-152062680
4	STAT3	chr1:152062573-152062887	MCF10A-Er-Src	breast:	n/a	chr1:152062666-152062674 chr1:152062660-152062680 chr1:152062664-152062675 chr1:152062663-152062677 chr1:152062651-152062674 chr1:152062660-152062680
5	FOS	chr1:152062620-152062768	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:152062498-152062918	MCF10A-Er-Src	breast:	n/a	chr1:152062666-152062674 chr1:152062660-152062680 chr1:152062664-152062675 chr1:152062663-152062677 chr1:152062651-152062674 chr1:152062660-152062680
7	FOS	chr1:152062686-152062841	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:152062245-152062976	MCF10A-Er-Src	breast:	n/a	chr1:152062666-152062674 chr1:152062660-152062680 chr1:152062664-152062675 chr1:152062663-152062677 chr1:152062651-152062674 chr1:152062660-152062680

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152061872..152064260-chr1:152068343..152070444,2	K562	blood:

Variant related genes	Relation type
TCHHL1	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1038746	1.00[CHB][hapmap]
rs1038748	1.00[CHB][hapmap]
rs10788816	1.00[CHB][hapmap]
rs10888453	1.00[CHB][hapmap]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11578030	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	1.00[CHB][hapmap]
rs1387835	1.00[CHB][hapmap]
rs1490191	1.00[CHB][hapmap]
rs1552606	1.00[CHB][hapmap]
rs1552607	1.00[CHB][hapmap]
rs1602245	1.00[CHB][hapmap]
rs1602248	1.00[CHB][hapmap]
rs17583707	1.00[CHB][hapmap]
rs1873311	1.00[CHB][hapmap]
rs1873312	1.00[CHB][hapmap]
rs1967085	1.00[CHB][hapmap]
rs2338018	1.00[CHB][hapmap]
rs2932563	1.00[CHB][hapmap]
rs2932567	1.00[CHB][hapmap]
rs2932592	1.00[CHB][hapmap]
rs2999514	1.00[CHB][hapmap]
rs2999527	1.00[CHB][hapmap]
rs2999529	1.00[CHB][hapmap]
rs2999535	1.00[CHB][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap]
rs2999538	1.00[CHB][hapmap]
rs2999547	0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs2999551	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs2999552	1.00[CHB][hapmap]
rs2999553	0.95[ASN][1000 genomes]
rs2999554	0.95[ASN][1000 genomes]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CHB][hapmap]
rs2999562	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3001979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs3007672	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs3007673	0.95[ASN][1000 genomes]
rs3007676	1.00[CHB][hapmap]
rs3007678	0.95[ASN][1000 genomes]
rs3007679	1.00[CHB][hapmap]
rs3007690	1.00[CHB][hapmap]
rs3007700	1.00[CHB][hapmap]
rs3007701	1.00[CHB][hapmap]
rs3007704	1.00[CHB][hapmap]
rs3104205	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs3122303	0.95[ASN][1000 genomes]
rs3122304	0.91[ASN][1000 genomes]
rs3134814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845393	1.00[CHB][hapmap]
rs58503750	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6587630	1.00[CHB][hapmap]
rs6587641	1.00[CHB][hapmap]
rs6659029	1.00[CHB][hapmap]
rs6691350	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap]
rs9943225	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:152061800-152063400	Weak transcription	Placenta	Placenta
2	chr1:152062000-152063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152062400-152062800	Enhancers	Fetal Intestine Large	intestine
4	chr1:152062600-152063200	Enhancers	Adipose Nuclei	Adipose

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