Variant report

Variant	rs59292975
Chromosome Location	chr1:175753166-175753167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10913080	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10913081	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10913082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060737	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12063660	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063716	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12082852	1.00[ASN][1000 genomes]
rs12089664	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16828536	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849183	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4652120	1.00[ASN][1000 genomes]
rs4652122	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4652123	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4652124	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4652127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57883023	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58121069	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59691682	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61306614	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61569088	1.00[ASN][1000 genomes]
rs6686537	0.92[ASN][1000 genomes]
rs73042139	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73042159	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046209	1.00[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	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	nsv528975	chr1:175430855-175757242	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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
6	nsv466083	chr1:175430855-175757242	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv548244	chr1:175430855-175757242	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175744400-175754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175751200-175753400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:175751800-175753400	Enhancers	HUVEC	blood vessel
4	chr1:175752200-175754200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:175752400-175753200	Enhancers	Brain Anterior Caudate	brain
6	chr1:175752400-175753600	Enhancers	Fetal Heart	heart
7	chr1:175752600-175754000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:175752600-175754200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:175752600-175759800	Weak transcription	Aorta	Aorta
10	chr1:175752600-175764400	Weak transcription	Right Atrium	heart
11	chr1:175752800-175753800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:175752800-175753800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:175753000-175753400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:175753000-175754600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:175753000-175757000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:175753000-175761400	Weak transcription	Left Ventricle	heart

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