Variant report

Variant	rs2320621
Chromosome Location	chr2:95797673-95797674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95795982..95798350-chr2:95824830..95826539,2	MCF-7	breast:
2	chr2:95786643..95789663-chr2:95794171..95798449,6	MCF-7	breast:
3	chr2:95795592..95798497-chr2:95807423..95809388,2	MCF-7	breast:
4	chr2:95797150..95798701-chr2:95798714..95800739,2	K562	blood:

Variant related genes	Relation type
ENSG00000144029	Chromatin interaction
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10195614	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1104775	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12992066	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17119148	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1875402	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966272	0.94[EUR][1000 genomes]
rs2001254	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010533	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2098768	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2291991	0.83[EUR][1000 genomes]
rs2320339	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2320619	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2320620	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320624	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3105100	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3105101	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3105102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3105104	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3105105	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3112221	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112222	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112223	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112225	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112228	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112229	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3112230	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3112231	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3112982	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3112983	0.83[EUR][1000 genomes]
rs3112984	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112985	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3112986	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112987	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112995	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112996	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112997	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112999	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3113000	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3113001	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772044	0.81[EUR][1000 genomes]
rs4854243	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4854244	0.84[EUR][1000 genomes]
rs4854247	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4854249	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6719098	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6723333	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6725821	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585473	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7585914	0.83[EUR][1000 genomes]
rs7586229	0.83[EUR][1000 genomes]
rs872580	0.83[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	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95788200-95799000	Weak transcription	Ovary	ovary
2	chr2:95788200-95809800	Weak transcription	Right Ventricle	heart
3	chr2:95788400-95799000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:95788400-95799200	Weak transcription	Fetal Brain Female	brain
5	chr2:95788400-95800000	Weak transcription	Fetal Lung	lung
6	chr2:95788400-95800600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:95788400-95804600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:95788600-95802000	Weak transcription	Fetal Brain Male	brain
9	chr2:95788600-95807600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:95797000-95798600	ZNF genes & repeats	Fetal Stomach	stomach
11	chr2:95797200-95798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:95797200-95801000	Weak transcription	Gastric	stomach
13	chr2:95797400-95798800	Weak transcription	Aorta	Aorta

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