Variant report

Variant	rs2985722
Chromosome Location	chr1:146533291-146533292
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	chr1:146532723..146535338-chr1:146554228..146556510,3	K562	blood:

Variant related genes	Relation type
ENSG00000230832	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10157212	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1596236	0.85[ASN][1000 genomes]
rs17160592	0.85[ASN][1000 genomes]
rs1867140	0.85[ASN][1000 genomes]
rs2477568	0.85[ASN][1000 genomes]
rs2477569	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2477570	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2584952	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2920157	0.81[ASN][1000 genomes]
rs3011803	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3011807	0.82[ASN][1000 genomes]
rs3011808	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3011809	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3011810	0.85[ASN][1000 genomes]
rs4492676	0.81[ASN][1000 genomes]
rs4494193	0.84[ASN][1000 genomes]
rs4623760	0.82[ASN][1000 genomes]
rs471555	0.81[ASN][1000 genomes]
rs492243	0.85[ASN][1000 genomes]
rs493000	0.85[ASN][1000 genomes]
rs494122	0.85[ASN][1000 genomes]
rs4950301	0.85[ASN][1000 genomes]
rs4950302	0.85[ASN][1000 genomes]
rs4950303	0.85[ASN][1000 genomes]
rs4950354	0.85[ASN][1000 genomes]
rs4950355	0.85[ASN][1000 genomes]
rs4950356	0.85[ASN][1000 genomes]
rs4950359	0.85[ASN][1000 genomes]
rs4950360	0.85[ASN][1000 genomes]
rs4950362	0.85[ASN][1000 genomes]
rs4950364	0.85[ASN][1000 genomes]
rs517201	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs535827	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs554708	0.81[ASN][1000 genomes]
rs556976	0.85[ASN][1000 genomes]
rs56060937	0.85[ASN][1000 genomes]
rs56359955	0.82[ASN][1000 genomes]
rs580852	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584107	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59064267	0.85[ASN][1000 genomes]
rs604106	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs604716	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618575	0.85[ASN][1000 genomes]
rs618622	0.82[ASN][1000 genomes]
rs630630	0.90[ASN][1000 genomes]
rs632334	0.85[ASN][1000 genomes]
rs632861	0.85[ASN][1000 genomes]
rs648937	0.85[ASN][1000 genomes]
rs659728	0.85[ASN][1000 genomes]
rs660096	0.85[ASN][1000 genomes]
rs660604	0.85[ASN][1000 genomes]
rs661116	0.85[ASN][1000 genomes]
rs671690	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs675782	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs675809	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs676288	0.85[ASN][1000 genomes]
rs676773	0.81[ASN][1000 genomes]
rs678111	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs685741	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719969	0.85[ASN][1000 genomes]
rs72704299	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72706414	0.85[ASN][1000 genomes]
rs72706418	0.84[ASN][1000 genomes]
rs942689	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9659068	0.85[ASN][1000 genomes]
rs9663073	0.84[ASN][1000 genomes]
rs976620	0.82[ASN][1000 genomes]
rs976621	0.82[ASN][1000 genomes]
rs976622	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428224	chr1:145613243-146553918	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
5	nsv872253	chr1:146494246-146548549	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv872254	chr1:146503841-146544721	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
8	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
11	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
13	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
14	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
16	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146531400-146543200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:146533000-146534600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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