Variant report

Variant	rs2309812
Chromosome Location	chr2:100869702-100869703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100866864..100870366-chr2:100873270..100876644,3	K562	blood:
2	chr2:100868663..100870947-chr2:100874796..100876826,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496345	0.81[EUR][1000 genomes]
rs10496346	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865037	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123817	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11123818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123819	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123820	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123821	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123823	1.00[YRI][hapmap]
rs1122231	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1160543	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1160545	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684761	0.82[EUR][1000 genomes]
rs11685491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686372	0.82[EUR][1000 genomes]
rs11687241	0.87[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs11689199	0.86[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11689201	0.88[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11690335	0.82[EUR][1000 genomes]
rs11691409	0.82[EUR][1000 genomes]
rs11693324	0.82[EUR][1000 genomes]
rs11694723	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11695383	0.82[EUR][1000 genomes]
rs11695996	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12053126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614880	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12615145	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619178	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12987662	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12990462	0.82[EUR][1000 genomes]
rs12991254	0.81[EUR][1000 genomes]
rs12992090	0.81[EUR][1000 genomes]
rs12994592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010010	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13013169	0.80[EUR][1000 genomes]
rs13017207	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13018640	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019179	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13026143	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026283	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13034176	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465800	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465801	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2309838	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2871344	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4303732	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4331524	0.81[AFR][1000 genomes]
rs4583487	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4622752	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4851264	0.80[EUR][1000 genomes]
rs4851266	0.81[EUR][1000 genomes]
rs4851267	0.88[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs4851268	0.82[EUR][1000 genomes]
rs4851270	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4851271	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6709656	0.80[EUR][1000 genomes]
rs6750097	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6750505	0.80[EUR][1000 genomes]
rs7566527	0.80[EUR][1000 genomes]
rs893246	0.81[EUR][1000 genomes]
rs999052	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100869400-100870200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:100869600-100869800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100869600-100870200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:100869600-100870200	Enhancers	Esophagus	oesophagus
7	chr2:100869600-100870200	Enhancers	Fetal Brain Female	brain
8	chr2:100869600-100870200	Enhancers	Left Ventricle	heart

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