Variant report

Variant	rs2320620
Chromosome Location	chr2:95735140-95735141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95734957..95736843-chr2:95739630..95742523,2	K562	blood:
2	chr2:95724354..95726435-chr2:95734944..95737851,2	MCF-7	breast:
3	chr2:95734800..95737565-chr2:95824540..95826523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10172167	0.80[CEU][hapmap]
rs17119148	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes]
rs1875402	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1966272	0.83[EUR][1000 genomes]
rs2001254	0.86[EUR][1000 genomes]
rs2098768	0.83[EUR][1000 genomes]
rs2291991	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2320619	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2320621	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320624	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3105098	0.81[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105099	0.86[YRI][hapmap]
rs3105100	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3105102	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3105104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3105105	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112221	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112222	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112223	0.87[EUR][1000 genomes]
rs3112225	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3112228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112229	0.84[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3112230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112231	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3112982	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3112983	0.95[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.85[YRI][hapmap];0.95[EUR][1000 genomes]
rs3112984	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3112986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3112987	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3112988	0.82[ASN][1000 genomes]
rs3112990	0.82[ASN][1000 genomes]
rs3112995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112999	0.82[EUR][1000 genomes]
rs3113000	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3113001	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3113002	0.89[CHB][hapmap];0.86[YRI][hapmap]
rs4241315	0.94[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs4555374	0.80[CEU][hapmap]
rs4564804	0.80[CEU][hapmap]
rs4854241	0.84[CEU][hapmap]
rs4854243	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4854244	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4854247	0.84[EUR][1000 genomes]
rs4854249	0.81[EUR][1000 genomes]
rs6708474	0.81[CEU][hapmap]
rs6719098	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6723333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6725821	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs7565772	0.95[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7582368	0.95[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs7585473	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs872580	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9324212	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv2422150	chr2:95730974-95735466	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv441769	chr2:95730974-95735466	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv829576	chr2:95734193-95736415	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv829577	chr2:95734459-95736415	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95729600-95737200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:95729800-95737800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:95729800-95740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:95732200-95742400	Weak transcription	Pancreas	Pancrea
5	chr2:95733400-95742400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:95734200-95742400	Weak transcription	Right Atrium	heart
7	chr2:95734600-95735800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:95734600-95737200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:95734600-95737400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:95734800-95737400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:95735000-95735200	Bivalent Enhancer	HepG2	liver

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