Variant report

Variant	rs2865116
Chromosome Location	chr7:69042724-69042725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10265771	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983891	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12671695	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860488	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2098116	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533426	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533427	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2533428	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2533429	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2533430	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2533431	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2533433	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2533435	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2533441	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533442	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533444	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533448	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533451	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533452	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533454	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533455	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2533457	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2533458	0.81[AMR][1000 genomes]
rs2851483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851484	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2851489	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851490	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851492	0.81[AMR][1000 genomes]
rs2851496	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2851497	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851498	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851501	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851505	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851506	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851507	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851508	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851510	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851511	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851513	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851514	0.81[AMR][1000 genomes]
rs2851515	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2851516	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3886905	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41849	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41852	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41856	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41859	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41860	0.85[ASN][1000 genomes]
rs41861	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41866	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41868	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5005279	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs505949	0.81[EUR][1000 genomes]
rs513150	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs532820	0.81[AMR][1000 genomes]
rs547630	0.81[EUR][1000 genomes]
rs56302473	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs565505	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs576193	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs585282	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs595681	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs610930	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs61135042	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs626767	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs627981	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs645245	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6460523	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs646233	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs649200	0.81[AMR][1000 genomes]
rs6944645	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974900	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786584	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800272	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69041800-69043000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:69041800-69043200	Enhancers	Brain Germinal Matrix	brain
3	chr7:69042000-69043000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr7:69042200-69043000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:69042200-69043000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:69042200-69043000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:69042200-69043000	Enhancers	Brain Anterior Caudate	brain
8	chr7:69042200-69043000	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:69042200-69043000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:69042200-69043000	Enhancers	Brain Substantia Nigra	brain
11	chr7:69042400-69043000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:69042400-69043000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:69042400-69043000	Enhancers	Brain Hippocampus Middle	brain
14	chr7:69042400-69043000	Enhancers	Fetal Muscle Leg	muscle
15	chr7:69042600-69043000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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