Variant report

Variant	rs6723129
Chromosome Location	chr2:152583396-152583397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152582502..152584750-chr2:152594668..152596852,2	MCF-7	breast:
2	chr2:152579209..152581619-chr2:152582308..152583986,2	K562	blood:
3	chr2:152579209..152581480-chr2:152582486..152584522,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10170273	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10172692	0.81[EUR][1000 genomes]
rs10178880	0.87[ASN][1000 genomes]
rs10193188	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930723	0.87[ASN][1000 genomes]
rs10930740	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930777	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695661	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052828	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12328501	0.81[EUR][1000 genomes]
rs12464543	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12620077	0.84[ASN][1000 genomes]
rs12693090	0.91[EUR][1000 genomes]
rs13015219	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13032138	0.82[ASN][1000 genomes]
rs13428975	0.84[ASN][1000 genomes]
rs4077121	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4077122	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4271765	0.88[ASN][1000 genomes]
rs4274593	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4289189	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4309576	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4349344	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4355107	0.87[EUR][1000 genomes]
rs4358117	0.82[AMR][1000 genomes]
rs4374369	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375863	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4381781	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4413159	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4425075	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4465763	0.92[EUR][1000 genomes]
rs4508593	0.87[EUR][1000 genomes]
rs4508594	0.87[EUR][1000 genomes]
rs4564765	0.82[ASN][1000 genomes]
rs4564766	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4611637	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4614931	0.87[EUR][1000 genomes]
rs4625904	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4664497	0.92[EUR][1000 genomes]
rs4664501	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664502	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433566	0.92[EUR][1000 genomes]
rs6433569	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433575	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433603	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433606	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433610	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6713162	0.86[ASN][1000 genomes]
rs6715755	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716286	0.94[EUR][1000 genomes]
rs6730589	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6733811	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733909	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6734148	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735208	0.91[EUR][1000 genomes]
rs6747113	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760384	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7426114	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7563441	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564024	0.81[EUR][1000 genomes]
rs7564674	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152564600-152584000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:152575800-152584200	Weak transcription	Aorta	Aorta
3	chr2:152581800-152584200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:152581800-152585400	Weak transcription	Psoas Muscle	Psoas
5	chr2:152582000-152584200	Weak transcription	HSMMtube	muscle
6	chr2:152582800-152586400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:152583000-152584400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr2:152583000-152586400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr2:152583000-152587400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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