Variant report

Variant	rs1601985
Chromosome Location	chr12:48761914-48761915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48753396..48755758-chr12:48761322..48764129,2	MCF-7	breast:
2	chr12:48752580..48755236-chr12:48760694..48763424,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1061986	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1107654	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs11168437	1.00[CHD][hapmap]
rs1387259	0.84[AMR][1000 genomes]
rs1387260	0.84[AMR][1000 genomes]
rs1489108	0.82[AMR][1000 genomes]
rs2054905	0.80[CEU][hapmap];0.81[AMR][1000 genomes]
rs2450994	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs2468943	0.84[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2634670	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2634676	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2634678	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2634680	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2634681	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs2634682	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2634684	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2634691	0.81[AMR][1000 genomes]
rs2634692	0.82[AMR][1000 genomes]
rs2634693	0.84[AMR][1000 genomes]
rs2634694	0.81[AMR][1000 genomes]
rs2732441	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs2732448	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2732453	0.82[AMR][1000 genomes]
rs2732457	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2732466	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732479	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732480	0.85[GIH][hapmap]
rs2732481	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732484	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732486	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732488	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2956703	0.81[AMR][1000 genomes]
rs7297824	0.80[CEU][hapmap]
rs7315820	0.80[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs7486941	1.00[CHD][hapmap]
rs7487682	1.00[CHD][hapmap]
rs7959684	1.00[CHD][hapmap]
rs7960122	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs923397	0.88[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1601985	H1FNT	cis	Artery Tibial	GTEx
rs1601985	ZNF641	cis	cerebellum	SCAN
rs1601985	H1FNT	cis	Muscle Skeletal	GTEx
rs1601985	ZNF641	cis	Muscle Skeletal	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48745600-48762400	Weak transcription	Aorta	Aorta
2	chr12:48746600-48762400	Weak transcription	Lung	lung
3	chr12:48761400-48762600	Weak transcription	Right Atrium	heart

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