Variant report

Variant	rs72709212
Chromosome Location	chr1:175761549-175761550
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	chr1:175749771..175752495-chr1:175760557..175762421,2	MCF-7	breast:
2	chr1:175759186..175762304-chr1:175765098..175768230,3	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10913081	0.82[EUR][1000 genomes]
rs12063716	0.82[EUR][1000 genomes]
rs12755733	1.00[AFR][1000 genomes]
rs4652122	0.82[EUR][1000 genomes]
rs4652123	0.82[EUR][1000 genomes]
rs4652124	0.82[EUR][1000 genomes]
rs475143	0.93[EUR][1000 genomes]
rs485654	0.93[EUR][1000 genomes]
rs504748	0.93[EUR][1000 genomes]
rs515031	0.93[EUR][1000 genomes]
rs537560	0.93[EUR][1000 genomes]
rs562631	0.93[EUR][1000 genomes]
rs57883023	0.82[EUR][1000 genomes]
rs58121069	0.82[EUR][1000 genomes]
rs59691682	0.82[EUR][1000 genomes]
rs61169187	1.00[EUR][1000 genomes]
rs61306614	0.82[EUR][1000 genomes]
rs72709203	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709218	1.00[EUR][1000 genomes]
rs72709224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709228	1.00[EUR][1000 genomes]
rs72709229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709230	1.00[EUR][1000 genomes]
rs72709231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709233	1.00[EUR][1000 genomes]
rs72709234	1.00[EUR][1000 genomes]
rs72709236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709246	1.00[EUR][1000 genomes]
rs72709250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709257	1.00[EUR][1000 genomes]
rs72709260	1.00[EUR][1000 genomes]
rs72709261	1.00[EUR][1000 genomes]
rs72709265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709266	1.00[EUR][1000 genomes]
rs72709269	1.00[EUR][1000 genomes]
rs72709270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709271	1.00[EUR][1000 genomes]
rs72709274	1.00[EUR][1000 genomes]
rs72709275	1.00[EUR][1000 genomes]
rs72709276	1.00[EUR][1000 genomes]
rs72709278	0.87[EUR][1000 genomes]
rs72709279	1.00[EUR][1000 genomes]
rs72709282	1.00[EUR][1000 genomes]
rs72709283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711109	1.00[EUR][1000 genomes]
rs72711110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711123	1.00[AMR][1000 genomes]
rs72711125	1.00[AMR][1000 genomes]
rs72711126	1.00[AMR][1000 genomes]
rs72711128	1.00[AMR][1000 genomes]
rs72711131	1.00[AMR][1000 genomes]
rs72711143	1.00[AMR][1000 genomes]
rs72711146	1.00[AMR][1000 genomes]
rs72711148	1.00[AMR][1000 genomes]
rs72711151	1.00[AMR][1000 genomes]
rs72711153	1.00[AMR][1000 genomes]
rs72711156	1.00[AMR][1000 genomes]
rs72711158	1.00[AMR][1000 genomes]
rs72713219	1.00[AMR][1000 genomes]
rs72713222	1.00[AMR][1000 genomes]
rs72713225	1.00[AMR][1000 genomes]
rs72713227	1.00[AMR][1000 genomes]
rs72713229	1.00[AMR][1000 genomes]
rs72713231	1.00[AMR][1000 genomes]
rs72713232	1.00[AMR][1000 genomes]
rs72727638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175752600-175764400	Weak transcription	Right Atrium	heart
2	chr1:175760400-175761600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:175760400-175761800	Enhancers	Psoas Muscle	Psoas
4	chr1:175761000-175761600	Enhancers	Fetal Stomach	stomach
5	chr1:175761200-175761800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:175761200-175761800	Enhancers	Fetal Brain Male	brain
7	chr1:175761200-175762600	Enhancers	Aorta	Aorta
8	chr1:175761200-175762600	Enhancers	Fetal Lung	lung
9	chr1:175761200-175763000	Enhancers	Fetal Heart	heart
10	chr1:175761400-175761800	Enhancers	Left Ventricle	heart
11	chr1:175761400-175761800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:175761400-175763600	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:175761400-175770000	Weak transcription	Pancreas	Pancrea

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