Variant report

Variant	rs2501843
Chromosome Location	chr1:212830961-212830962
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	chr1:212786392..212789030-chr1:212829943..212832629,2	K562	blood:
2	chr1:212823728..212827413-chr1:212828149..212831399,4	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2251502	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2456824	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2456825	1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs2456826	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2501839	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MKK][hapmap];0.86[ASN][1000 genomes]
rs2501844	0.88[ASN][1000 genomes]
rs2840386	1.00[AMR][1000 genomes]
rs2970541	1.00[AMR][1000 genomes]
rs3122717	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3122718	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MKK][hapmap];0.86[ASN][1000 genomes]
rs35464401	1.00[AMR][1000 genomes]
rs504361	1.00[AMR][1000 genomes]
rs525552	1.00[AMR][1000 genomes]
rs546035	1.00[AMR][1000 genomes]
rs565014	1.00[AMR][1000 genomes]
rs580570	1.00[AMR][1000 genomes]
rs581751	1.00[AMR][1000 genomes]
rs600959	1.00[AMR][1000 genomes]
rs609614	1.00[AMR][1000 genomes]
rs611119	1.00[AMR][1000 genomes]
rs613464	1.00[AMR][1000 genomes]
rs613477	1.00[AMR][1000 genomes]
rs615521	1.00[AMR][1000 genomes]
rs634906	1.00[AMR][1000 genomes]
rs644143	1.00[AMR][1000 genomes]
rs650703	1.00[AMR][1000 genomes]
rs654256	1.00[AMR][1000 genomes]
rs665435	1.00[AMR][1000 genomes]
rs6671764	1.00[AMR][1000 genomes]
rs681533	1.00[AMR][1000 genomes]
rs791852	1.00[AMR][1000 genomes]
rs9429892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212818600-212838400	Weak transcription	Right Atrium	heart
2	chr1:212820400-212838600	Weak transcription	Lung	lung
3	chr1:212824200-212838600	Weak transcription	Spleen	Spleen
4	chr1:212829000-212831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:212829600-212838400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212829800-212838800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:212830200-212831000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:212830400-212831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:212830600-212831000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:212830800-212831000	Enhancers	Osteobl	bone

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