Variant report

Variant	rs12988963
Chromosome Location	chr2:208961580-208961581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10178641	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10188278	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10188286	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10192276	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10198963	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11684908	0.87[EUR][1000 genomes]
rs11690797	0.88[EUR][1000 genomes]
rs13006347	0.81[EUR][1000 genomes]
rs13008550	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806338	0.90[EUR][1000 genomes]
rs2084872	0.87[EUR][1000 genomes]
rs34589201	0.81[EUR][1000 genomes]
rs35934862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6435407	0.87[ASN][1000 genomes]
rs6435411	0.81[EUR][1000 genomes]
rs6713275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716279	0.87[EUR][1000 genomes]
rs6728327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744189	0.87[ASN][1000 genomes]
rs6745137	0.87[EUR][1000 genomes]
rs6745370	0.87[EUR][1000 genomes]
rs6747966	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6757791	0.86[ASN][1000 genomes]
rs6758319	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6759995	0.87[EUR][1000 genomes]
rs6761316	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732008	0.87[EUR][1000 genomes]
rs732009	0.87[EUR][1000 genomes]
rs7349197	0.87[EUR][1000 genomes]
rs7586866	0.88[EUR][1000 genomes]
rs7586953	0.88[EUR][1000 genomes]
rs7587397	0.88[EUR][1000 genomes]
rs7589556	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7590593	0.87[EUR][1000 genomes]
rs7604207	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:208958600-208964800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:208960600-208963400	Enhancers	Fetal Heart	heart
3	chr2:208961000-208964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208961000-208964800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:208961200-208964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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