Variant report

Variant	rs4652122
Chromosome Location	chr1:175760035-175760036
allele	A/C
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: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10913080	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10913081	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913082	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12060737	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12063660	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12063716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12082852	1.00[ASN][1000 genomes]
rs12089664	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16828536	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16849183	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4652120	1.00[ASN][1000 genomes]
rs4652123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652124	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652127	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57883023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59292975	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59691682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61169187	0.82[EUR][1000 genomes]
rs61306614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61569088	1.00[ASN][1000 genomes]
rs6686537	0.92[ASN][1000 genomes]
rs72709205	0.82[EUR][1000 genomes]
rs72709207	0.82[EUR][1000 genomes]
rs72709212	0.82[EUR][1000 genomes]
rs72709218	0.82[EUR][1000 genomes]
rs72709224	0.82[EUR][1000 genomes]
rs72709226	0.82[EUR][1000 genomes]
rs72709228	0.82[EUR][1000 genomes]
rs72709229	0.82[EUR][1000 genomes]
rs72709230	0.82[EUR][1000 genomes]
rs72709231	0.82[EUR][1000 genomes]
rs72709233	0.82[EUR][1000 genomes]
rs72709234	0.82[EUR][1000 genomes]
rs72709236	0.82[EUR][1000 genomes]
rs72709237	0.82[EUR][1000 genomes]
rs72709245	0.82[EUR][1000 genomes]
rs72709246	0.82[EUR][1000 genomes]
rs72709250	0.82[EUR][1000 genomes]
rs72709253	0.82[EUR][1000 genomes]
rs72709257	0.82[EUR][1000 genomes]
rs72709260	0.82[EUR][1000 genomes]
rs72709261	0.82[EUR][1000 genomes]
rs72709265	0.82[EUR][1000 genomes]
rs72709266	0.82[EUR][1000 genomes]
rs72709269	0.82[EUR][1000 genomes]
rs72709270	0.82[EUR][1000 genomes]
rs72709271	0.82[EUR][1000 genomes]
rs72709274	0.82[EUR][1000 genomes]
rs72709275	0.82[EUR][1000 genomes]
rs72709276	0.82[EUR][1000 genomes]
rs72709279	0.82[EUR][1000 genomes]
rs72709282	0.82[EUR][1000 genomes]
rs72709283	0.82[EUR][1000 genomes]
rs72709285	0.82[EUR][1000 genomes]
rs72709287	0.82[EUR][1000 genomes]
rs72709289	0.82[EUR][1000 genomes]
rs72709290	0.82[EUR][1000 genomes]
rs72709292	0.82[EUR][1000 genomes]
rs72709293	0.82[EUR][1000 genomes]
rs72709295	0.82[EUR][1000 genomes]
rs72709296	0.82[EUR][1000 genomes]
rs72709299	0.82[EUR][1000 genomes]
rs72709300	0.82[EUR][1000 genomes]
rs72709302	0.82[EUR][1000 genomes]
rs72711103	0.82[EUR][1000 genomes]
rs72711105	0.82[EUR][1000 genomes]
rs72711106	0.82[EUR][1000 genomes]
rs72711107	0.82[EUR][1000 genomes]
rs72711108	0.82[EUR][1000 genomes]
rs72711109	0.82[EUR][1000 genomes]
rs72711110	0.82[EUR][1000 genomes]
rs72711111	0.82[EUR][1000 genomes]
rs72711113	0.82[EUR][1000 genomes]
rs72727638	0.82[EUR][1000 genomes]
rs73042139	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73042159	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046209	1.00[ASN][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	chr1:175752600-175764400	Weak transcription	Right Atrium	heart
2	chr1:175753000-175761400	Weak transcription	Left Ventricle	heart
3	chr1:175755600-175760400	Weak transcription	Psoas Muscle	Psoas
4	chr1:175757600-175761200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:175758200-175760400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:175758200-175760400	Weak transcription	Pancreas	Pancrea
7	chr1:175758200-175761200	Weak transcription	Brain Germinal Matrix	brain
8	chr1:175759000-175760400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:175759800-175760800	Enhancers	Aorta	Aorta

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