Variant report

Variant	rs12127369
Chromosome Location	chr1:197769662-197769663
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	chr1:197742811..197746253-chr1:197766059..197770491,4	K562	blood:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10442656	0.90[ASN][1000 genomes]
rs10442660	0.90[ASN][1000 genomes]
rs10494758	0.81[ASN][1000 genomes]
rs10737692	0.90[ASN][1000 genomes]
rs10754225	0.89[ASN][1000 genomes]
rs10922253	0.90[ASN][1000 genomes]
rs10922255	0.90[ASN][1000 genomes]
rs10922256	0.81[ASN][1000 genomes]
rs10922257	0.81[ASN][1000 genomes]
rs10922258	0.90[ASN][1000 genomes]
rs10922261	0.81[ASN][1000 genomes]
rs10922262	0.81[ASN][1000 genomes]
rs10922288	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922293	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12025476	0.81[ASN][1000 genomes]
rs12041661	0.81[ASN][1000 genomes]
rs12116508	0.81[ASN][1000 genomes]
rs12116519	0.81[ASN][1000 genomes]
rs12117095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125739	0.81[ASN][1000 genomes]
rs12125742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127378	0.81[ASN][1000 genomes]
rs12129043	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12131160	0.81[ASN][1000 genomes]
rs12133885	0.90[ASN][1000 genomes]
rs12137370	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12562684	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12563879	0.81[ASN][1000 genomes]
rs12565840	0.81[ASN][1000 genomes]
rs12731480	0.81[ASN][1000 genomes]
rs12740849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12740869	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12744898	0.81[ASN][1000 genomes]
rs12747786	0.81[ASN][1000 genomes]
rs1342694	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1342696	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1362939	0.90[ASN][1000 genomes]
rs1421397	0.90[ASN][1000 genomes]
rs1499592	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1499593	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1539413	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573098	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1573099	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1578718	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578719	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1578720	0.83[ASN][1000 genomes]
rs1592220	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1592221	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1621898	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1622740	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1622904	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1623752	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747811	0.83[ASN][1000 genomes]
rs1747812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747813	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1747814	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1747815	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1747817	0.86[ASN][1000 genomes]
rs1747818	0.96[ASN][1000 genomes]
rs1747820	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747821	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747822	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747823	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747824	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747825	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1747826	0.81[ASN][1000 genomes]
rs1747827	0.81[ASN][1000 genomes]
rs1747828	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17565558	0.81[ASN][1000 genomes]
rs17622452	0.81[ASN][1000 genomes]
rs1775441	0.86[ASN][1000 genomes]
rs1775442	0.86[ASN][1000 genomes]
rs1775443	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775444	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775445	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775446	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1775447	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1775450	0.93[ASN][1000 genomes]
rs1775451	0.83[ASN][1000 genomes]
rs1775453	0.93[ASN][1000 genomes]
rs1775454	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1775456	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1775457	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1775458	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775459	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775460	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775461	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775463	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775464	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775465	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775466	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775467	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775469	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1775470	0.83[ASN][1000 genomes]
rs1833464	0.90[ASN][1000 genomes]
rs1891497	0.83[ASN][1000 genomes]
rs1924518	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1969	0.90[ASN][1000 genomes]
rs2016722	0.90[ASN][1000 genomes]
rs2111931	0.90[ASN][1000 genomes]
rs2133535	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147300	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160969	0.85[ASN][1000 genomes]
rs2193733	0.90[ASN][1000 genomes]
rs2193734	0.89[ASN][1000 genomes]
rs2253257	0.92[ASN][1000 genomes]
rs2265664	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266033	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266034	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266035	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358774	0.93[ASN][1000 genomes]
rs2454640	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454641	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454642	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2477060	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2477063	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2477065	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2477066	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2477069	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477070	0.81[ASN][1000 genomes]
rs2477071	0.90[ASN][1000 genomes]
rs2477074	0.83[ASN][1000 genomes]
rs2477075	0.83[ASN][1000 genomes]
rs2477076	0.83[ASN][1000 genomes]
rs2477553	0.90[ASN][1000 genomes]
rs2488387	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2488390	0.90[ASN][1000 genomes]
rs2488392	0.81[AMR][1000 genomes]
rs2488394	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2488395	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488396	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488400	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2488402	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488403	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2488404	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2488405	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2488409	0.93[ASN][1000 genomes]
rs2488410	0.83[ASN][1000 genomes]
rs2488411	0.93[ASN][1000 genomes]
rs2497862	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2497863	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2649556	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2649557	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797147	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34261593	0.81[ASN][1000 genomes]
rs34548547	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35170775	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35191270	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3814321	0.90[ASN][1000 genomes]
rs4915248	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4915554	0.81[ASN][1000 genomes]
rs4915555	0.81[ASN][1000 genomes]
rs4915557	0.81[ASN][1000 genomes]
rs4915558	0.81[ASN][1000 genomes]
rs4915566	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55873039	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61829341	0.81[ASN][1000 genomes]
rs61830571	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61830598	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6428410	0.90[ASN][1000 genomes]
rs6428411	0.86[ASN][1000 genomes]
rs6428412	0.90[ASN][1000 genomes]
rs6658157	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672023	0.81[ASN][1000 genomes]
rs6676073	0.81[ASN][1000 genomes]
rs6676795	0.90[ASN][1000 genomes]
rs6682689	0.90[ASN][1000 genomes]
rs6689216	0.90[ASN][1000 genomes]
rs6691173	0.90[ASN][1000 genomes]
rs6697696	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698921	0.90[ASN][1000 genomes]
rs6704186	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523909	0.90[ASN][1000 genomes]
rs7526770	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526846	0.90[ASN][1000 genomes]
rs7531581	0.86[ASN][1000 genomes]
rs7538522	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7544969	0.81[ASN][1000 genomes]
rs8179369	0.90[ASN][1000 genomes]
rs972405	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947369	chr1:197750549-197778118	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197767600-197771400	ZNF genes & repeats	Dnd41	blood
2	chr1:197767800-197769800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:197768400-197770400	Weak transcription	Right Ventricle	heart
4	chr1:197768800-197770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:197769000-197769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:197769000-197771000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:197769000-197771000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:197769000-197771400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:197769200-197771000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:197769600-197771000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:197769600-197771600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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