Variant report

Variant	rs72709203
Chromosome Location	chr1:175759490-175759491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175759186..175762304-chr1:175765098..175768230,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12755733	1.00[AFR][1000 genomes]
rs475143	0.87[EUR][1000 genomes]
rs485654	0.87[EUR][1000 genomes]
rs504748	0.87[EUR][1000 genomes]
rs515031	0.87[EUR][1000 genomes]
rs537560	0.87[EUR][1000 genomes]
rs562631	0.87[EUR][1000 genomes]
rs61169187	0.93[EUR][1000 genomes]
rs72709205	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709207	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709212	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709218	0.93[EUR][1000 genomes]
rs72709224	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709226	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709228	0.93[EUR][1000 genomes]
rs72709229	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709230	0.93[EUR][1000 genomes]
rs72709231	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709233	0.93[EUR][1000 genomes]
rs72709234	0.93[EUR][1000 genomes]
rs72709236	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709237	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709245	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709246	0.93[EUR][1000 genomes]
rs72709250	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709253	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709257	0.93[EUR][1000 genomes]
rs72709260	0.93[EUR][1000 genomes]
rs72709261	0.93[EUR][1000 genomes]
rs72709265	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709266	0.93[EUR][1000 genomes]
rs72709269	0.93[EUR][1000 genomes]
rs72709270	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709271	0.93[EUR][1000 genomes]
rs72709274	0.93[EUR][1000 genomes]
rs72709275	0.93[EUR][1000 genomes]
rs72709276	0.93[EUR][1000 genomes]
rs72709278	0.81[EUR][1000 genomes]
rs72709279	0.93[EUR][1000 genomes]
rs72709282	0.93[EUR][1000 genomes]
rs72709283	0.93[EUR][1000 genomes]
rs72709285	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709287	0.93[EUR][1000 genomes]
rs72709289	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709290	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709292	0.93[EUR][1000 genomes]
rs72709293	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709295	0.93[EUR][1000 genomes]
rs72709296	0.93[EUR][1000 genomes]
rs72709299	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709300	0.93[EUR][1000 genomes]
rs72709302	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711103	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711105	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711106	0.93[EUR][1000 genomes]
rs72711107	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711108	0.93[EUR][1000 genomes]
rs72711109	0.93[EUR][1000 genomes]
rs72711110	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711111	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711113	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72711116	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72711117	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72711119	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72711120	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72727638	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999586	chr1:175428957-175765789	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1012012	chr1:175430199-175760752	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000135	chr1:175430199-175765789	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1008620	chr1:175430808-175760752	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv548245	chr1:175430855-175772378	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv998119	chr1:175436519-175760752	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1011962	chr1:175440153-175760752	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv831959	chr1:175576384-175776729	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:175752600-175759800	Weak transcription	Aorta	Aorta
2	chr1:175752600-175764400	Weak transcription	Right Atrium	heart
3	chr1:175753000-175761400	Weak transcription	Left Ventricle	heart
4	chr1:175755600-175760400	Weak transcription	Psoas Muscle	Psoas
5	chr1:175757600-175761200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:175758200-175760400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:175758200-175760400	Weak transcription	Pancreas	Pancrea
8	chr1:175758200-175761200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:175759000-175760400	Weak transcription	Fetal Muscle Leg	muscle

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