Variant report

Variant	rs2130628
Chromosome Location	chr1:210291476-210291477
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	chr1:210289977..210291636-chr1:210546709..210548548,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1002383	0.88[AMR][1000 genomes]
rs10127635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1016480	1.00[EUR][1000 genomes]
rs1016481	1.00[EUR][1000 genomes]
rs10863808	1.00[EUR][1000 genomes]
rs11119380	1.00[EUR][1000 genomes]
rs11119393	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119395	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119397	0.94[AMR][1000 genomes]
rs11119402	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119404	1.00[EUR][1000 genomes]
rs11119405	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801400	1.00[EUR][1000 genomes]
rs11810848	1.00[EUR][1000 genomes]
rs11811996	1.00[EUR][1000 genomes]
rs12059259	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073806	1.00[EUR][1000 genomes]
rs12078871	1.00[EUR][1000 genomes]
rs12079711	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080332	1.00[EUR][1000 genomes]
rs12082067	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085355	1.00[EUR][1000 genomes]
rs12086145	1.00[EUR][1000 genomes]
rs12088415	1.00[EUR][1000 genomes]
rs12089636	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090781	1.00[EUR][1000 genomes]
rs12092551	1.00[EUR][1000 genomes]
rs12093254	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239590	1.00[EUR][1000 genomes]
rs12239724	1.00[EUR][1000 genomes]
rs1334572	1.00[EUR][1000 genomes]
rs13376651	1.00[EUR][1000 genomes]
rs1413698	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1591300	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1602289	1.00[EUR][1000 genomes]
rs17015476	1.00[EUR][1000 genomes]
rs17015480	1.00[EUR][1000 genomes]
rs17015532	1.00[EUR][1000 genomes]
rs17015561	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015638	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015652	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17041975	1.00[EUR][1000 genomes]
rs2018942	1.00[EUR][1000 genomes]
rs2130626	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130627	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2171988	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34400113	1.00[EUR][1000 genomes]
rs35046399	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075770	1.00[EUR][1000 genomes]
rs56105015	1.00[EUR][1000 genomes]
rs56271040	1.00[EUR][1000 genomes]
rs56733441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57082045	1.00[EUR][1000 genomes]
rs57790572	1.00[EUR][1000 genomes]
rs58775140	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59230578	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59254815	0.84[AMR][1000 genomes]
rs59904008	0.89[AMR][1000 genomes]
rs61049229	1.00[EUR][1000 genomes]
rs6540577	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689269	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692116	1.00[EUR][1000 genomes]
rs6692822	1.00[EUR][1000 genomes]
rs73066422	1.00[EUR][1000 genomes]
rs73066498	1.00[EUR][1000 genomes]
rs73068419	1.00[EUR][1000 genomes]
rs73072224	1.00[EUR][1000 genomes]
rs74156109	1.00[EUR][1000 genomes]
rs74156117	1.00[EUR][1000 genomes]
rs74156272	1.00[EUR][1000 genomes]
rs7512760	1.00[EUR][1000 genomes]
rs7515629	1.00[EUR][1000 genomes]
rs7523089	1.00[EUR][1000 genomes]
rs7530907	1.00[EUR][1000 genomes]
rs7536495	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556078	1.00[EUR][1000 genomes]
rs970788	1.00[EUR][1000 genomes]
rs978754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9803620	1.00[EUR][1000 genomes]
rs9970894	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873141	chr1:210228131-210296910	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv873143	chr1:210233610-210296910	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv818800	chr1:210258653-210304319	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 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	chr1:210283000-210298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210289400-210291800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:210289400-210291800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:210290400-210291600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:210290800-210291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:210291200-210297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:210291400-210291600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:210291400-210291600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:210291400-210291800	Enhancers	HUES48 Cell Line	embryonic stem cell

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