Variant report

Variant	rs6714526
Chromosome Location	chr2:40971498-40971499
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	chr2:40971002..40972816-chr2:40973492..40975920,2	K562	blood:

Variant related genes	Relation type
ENSG00000233128	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10048831	0.80[EUR][1000 genomes]
rs1009356	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490260	0.80[EUR][1000 genomes]
rs10490261	0.80[EUR][1000 genomes]
rs10490265	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1107932	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12105490	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12463684	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12466363	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12466428	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12466466	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12466571	0.90[ASN][1000 genomes]
rs12469295	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12470937	0.89[ASN][1000 genomes]
rs12474457	0.82[ASN][1000 genomes]
rs12474560	0.82[ASN][1000 genomes]
rs12474649	0.81[ASN][1000 genomes]
rs13414829	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13422403	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17026478	0.80[EUR][1000 genomes]
rs17026493	0.81[EUR][1000 genomes]
rs17026498	0.83[EUR][1000 genomes]
rs17026547	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17039019	0.81[EUR][1000 genomes]
rs2110791	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2192816	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2192819	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2192820	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2216045	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28418485	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28704849	0.81[ASN][1000 genomes]
rs34359856	0.82[ASN][1000 genomes]
rs3851316	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3851317	0.84[EUR][1000 genomes]
rs3862989	0.90[ASN][1000 genomes]
rs4384832	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4952645	0.83[AFR][1000 genomes]
rs55690670	0.82[ASN][1000 genomes]
rs55772101	0.82[ASN][1000 genomes]
rs55814013	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55878022	0.82[ASN][1000 genomes]
rs56121667	0.82[ASN][1000 genomes]
rs56336113	0.81[ASN][1000 genomes]
rs60819615	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62139540	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62139545	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62139546	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62141367	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62141369	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62141370	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62141371	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62141372	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6708921	0.89[ASN][1000 genomes]
rs6712874	0.86[ASN][1000 genomes]
rs6720960	0.80[ASN][1000 genomes]
rs6721900	0.81[EUR][1000 genomes]
rs6733936	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6734048	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7563807	0.81[EUR][1000 genomes]
rs7584710	0.82[ASN][1000 genomes]
rs881189	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs983123	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873926	chr2:40835285-40986860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv456452	chr2:40890416-40989061	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv581515	chr2:40890416-40989061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv963911	chr2:40950223-40971701	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40949400-40973200	Weak transcription	HSMMtube	muscle
2	chr2:40969200-40974600	Weak transcription	Muscle Satellite Cultured Cells	--

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