Variant report

Variant	rs2143993
Chromosome Location	chr1:94327969-94327970
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94326500..94334861-chr1:94334949..94340833,11	K562	blood:

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10159000	0.93[ASN][1000 genomes]
rs10489607	0.93[ASN][1000 genomes]
rs10874811	0.92[ASN][1000 genomes]
rs10874812	0.93[ASN][1000 genomes]
rs11165005	0.81[AMR][1000 genomes]
rs11165014	0.81[AMR][1000 genomes]
rs11165017	0.81[AMR][1000 genomes]
rs11165031	0.94[ASN][1000 genomes]
rs11165034	0.93[ASN][1000 genomes]
rs11165037	0.91[ASN][1000 genomes]
rs12068168	0.85[ASN][1000 genomes]
rs12068345	0.91[ASN][1000 genomes]
rs12089163	0.94[ASN][1000 genomes]
rs12122406	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123641	0.81[AMR][1000 genomes]
rs12129986	0.92[ASN][1000 genomes]
rs12130623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131163	0.95[ASN][1000 genomes]
rs12131247	0.93[ASN][1000 genomes]
rs12135991	0.93[ASN][1000 genomes]
rs12137698	0.81[AMR][1000 genomes]
rs12139561	0.81[AMR][1000 genomes]
rs12140097	0.91[ASN][1000 genomes]
rs12141014	0.83[AMR][1000 genomes]
rs12144176	0.81[AMR][1000 genomes]
rs12401354	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407732	0.81[AMR][1000 genomes]
rs12408194	0.81[AMR][1000 genomes]
rs12410367	0.86[EUR][1000 genomes]
rs1473711	0.93[ASN][1000 genomes]
rs17100392	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17110458	0.86[EUR][1000 genomes]
rs1989020	0.93[ASN][1000 genomes]
rs1989021	0.93[ASN][1000 genomes]
rs2017736	0.93[ASN][1000 genomes]
rs2092697	0.95[ASN][1000 genomes]
rs2273406	0.91[ASN][1000 genomes]
rs2391324	0.92[ASN][1000 genomes]
rs35674584	0.97[ASN][1000 genomes]
rs3827715	0.92[ASN][1000 genomes]
rs41303970	0.91[ASN][1000 genomes]
rs4468172	0.83[AMR][1000 genomes]
rs4573532	0.91[ASN][1000 genomes]
rs4598495	0.94[ASN][1000 genomes]
rs57387172	0.93[ASN][1000 genomes]
rs57451717	0.81[AMR][1000 genomes]
rs60120441	0.94[ASN][1000 genomes]
rs61024563	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61667071	0.94[ASN][1000 genomes]
rs6680027	0.93[ASN][1000 genomes]
rs6681078	0.94[ASN][1000 genomes]
rs6696758	0.93[ASN][1000 genomes]
rs6699912	0.93[ASN][1000 genomes]
rs6700112	0.94[ASN][1000 genomes]
rs718873	0.93[ASN][1000 genomes]
rs718874	0.93[ASN][1000 genomes]
rs718875	0.93[ASN][1000 genomes]
rs743119	0.91[ASN][1000 genomes]
rs7536714	0.93[ASN][1000 genomes]
rs761889	0.93[ASN][1000 genomes]
rs769211	0.94[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	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94322600-94334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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