Variant report

Variant	rs12644941
Chromosome Location	chr4:21116763-21116764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10013055	0.94[JPT][hapmap]
rs10022535	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs10032561	0.87[JPT][hapmap]
rs10034038	0.93[JPT][hapmap]
rs10433822	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10516374	0.80[JPT][hapmap]
rs10938831	0.99[ASN][1000 genomes]
rs11735843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11735844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11736507	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11736572	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935122	0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11944165	0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11945600	0.88[JPT][hapmap]
rs11945646	0.88[JPT][hapmap]
rs11945692	0.88[JPT][hapmap]
rs12510687	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12639638	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640310	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640491	0.84[JPT][hapmap]
rs12642886	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12644882	1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646316	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12647437	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364832	0.80[JPT][hapmap]
rs1364838	0.80[JPT][hapmap]
rs1364839	0.80[JPT][hapmap]
rs1368646	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1368648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17446667	0.80[JPT][hapmap]
rs17448392	0.80[JPT][hapmap]
rs17506080	0.80[JPT][hapmap]
rs17513252	0.80[JPT][hapmap]
rs17574283	0.84[ASN][1000 genomes]
rs17637027	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043387	0.85[EUR][1000 genomes]
rs2043388	0.87[JPT][hapmap]
rs2113966	0.80[JPT][hapmap]
rs2163931	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2163933	0.93[JPT][hapmap]
rs2163934	0.88[JPT][hapmap]
rs28406534	0.85[EUR][1000 genomes]
rs4572877	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4574407	0.87[JPT][hapmap]
rs4590029	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4599408	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs4615170	0.88[JPT][hapmap]
rs55737345	0.88[EUR][1000 genomes]
rs55885656	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55957496	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56025335	0.88[EUR][1000 genomes]
rs56139613	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56412118	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58548088	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59223154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59416831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60444813	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61644618	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6810466	0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6810897	0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6815915	0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6817687	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6832569	0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6832607	0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6835991	0.80[JPT][hapmap]
rs6840528	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6845231	0.87[JPT][hapmap]
rs6845961	0.93[JPT][hapmap]
rs6854888	0.94[JPT][hapmap]
rs6855710	0.88[JPT][hapmap]
rs6858766	0.87[JPT][hapmap]
rs720852	0.93[JPT][hapmap]
rs720853	0.94[JPT][hapmap]
rs73802481	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7658908	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv829878	chr4:20966047-21138626	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv878745	chr4:21054348-21155716	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv878746	chr4:21054348-21169062	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv878747	chr4:21057794-21169062	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv878748	chr4:21113871-21169062	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv525552	chr4:21115516-21117334	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21114600-21117000	Enhancers	HUVEC	blood vessel
2	chr4:21115000-21119800	Weak transcription	Ovary	ovary
3	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:21116600-21116800	Enhancers	Rectal Smooth Muscle	rectum

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