Variant report

Variant	rs4347269
Chromosome Location	chr1:212689649-212689650
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212688702..212690352-chr1:212731451..212733749,2	K562	blood:
3	chr1:212683483..212690052-chr1:212778903..212785088,8	K562	blood:
4	chr1:212687310..212689846-chr1:212695967..212699890,3	K562	blood:
5	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
6	chr1:212687346..212690563-chr1:212787177..212790270,4	K562	blood:
7	chr1:212687936..212690352-chr1:212730094..212732951,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction
ENSG00000264590	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10779581	0.91[ASN][1000 genomes]
rs10863971	0.81[ASN][1000 genomes]
rs10863972	0.81[ASN][1000 genomes]
rs10863975	0.82[ASN][1000 genomes]
rs10863978	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11119949	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119950	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119951	0.82[ASN][1000 genomes]
rs11119953	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119956	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11119957	0.90[ASN][1000 genomes]
rs11119962	0.85[ASN][1000 genomes]
rs11119963	0.86[ASN][1000 genomes]
rs11119965	0.85[ASN][1000 genomes]
rs12030310	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12039386	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12046220	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12049168	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12143427	0.82[ASN][1000 genomes]
rs12410743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568048	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12569340	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1965301	0.80[ASN][1000 genomes]
rs4951453	0.83[ASN][1000 genomes]
rs4951602	0.82[ASN][1000 genomes]
rs4951603	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4951606	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4951607	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4951609	0.86[ASN][1000 genomes]
rs4951611	0.84[ASN][1000 genomes]
rs510189	0.86[ASN][1000 genomes]
rs606996	0.83[ASN][1000 genomes]
rs678640	0.83[ASN][1000 genomes]
rs72649985	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72649986	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72649987	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72649988	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72649989	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72649990	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72649991	0.98[ASN][1000 genomes]
rs72649993	0.86[ASN][1000 genomes]
rs750227	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs750228	0.86[ASN][1000 genomes]
rs791561	0.83[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	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212687800-212691800	Weak transcription	Hela-S3	cervix
2	chr1:212687800-212692000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212688000-212690600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:212688000-212691800	Weak transcription	A549	lung
5	chr1:212688000-212692200	Weak transcription	Left Ventricle	heart
6	chr1:212688400-212691800	Weak transcription	Pancreas	Pancrea
7	chr1:212688400-212692000	Weak transcription	Right Atrium	heart
8	chr1:212688400-212692200	Weak transcription	Right Ventricle	heart
9	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:212688800-212691800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:212689000-212691800	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:212689000-212692000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:212689000-212692000	Weak transcription	Esophagus	oesophagus
14	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212689400-212692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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