Variant report

Variant	rs7463261
Chromosome Location	chr8:54923752-54923753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54920883..54924009-chr8:54932299..54934950,3	K562	blood:
2	chr8:54915675..54917634-chr8:54921382..54924187,2	K562	blood:
3	chr8:54922330..54924100-chr8:54925061..54928080,4	K562	blood:
4	chr8:54754016..54756033-chr8:54922478..54924302,2	MCF-7	breast:
5	chr8:54757544..54760032-chr8:54922745..54924371,2	MCF-7	breast:
6	chr8:54918491..54920858-chr8:54923659..54925913,2	MCF-7	breast:
7	chr8:54914226..54918426-chr8:54921603..54924187,3	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10101097	0.92[ASN][1000 genomes]
rs10113246	0.95[ASN][1000 genomes]
rs1050523	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958396	0.80[ASN][1000 genomes]
rs11986577	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11993367	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994629	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11996666	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11997954	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056381	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12674671	0.98[ASN][1000 genomes]
rs12676510	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677696	0.83[AMR][1000 genomes]
rs1828835	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2037068	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2375697	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494618	0.97[ASN][1000 genomes]
rs4440612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506187	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4515510	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737457	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737479	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737485	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4737486	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737488	0.80[ASN][1000 genomes]
rs4738519	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738544	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738556	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738586	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57872947	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58387069	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58419852	0.84[ASN][1000 genomes]
rs58929175	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58948369	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59882028	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60183530	0.84[ASN][1000 genomes]
rs61319412	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473900	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473909	0.81[ASN][1000 genomes]
rs6983694	0.84[ASN][1000 genomes]
rs7009781	0.97[ASN][1000 genomes]
rs7011379	0.83[ASN][1000 genomes]
rs72614663	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72614664	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614665	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614666	0.84[ASN][1000 genomes]
rs72614667	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72614668	0.82[ASN][1000 genomes]
rs7464767	0.96[ASN][1000 genomes]
rs7815216	0.96[ASN][1000 genomes]
rs9298497	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643823	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643824	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
3	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
7	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
8	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
9	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
14	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
15	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:54905400-54926600	Weak transcription	Ovary	ovary
18	chr8:54908200-54926800	Weak transcription	Osteobl	bone
19	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
20	chr8:54909000-54923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:54909000-54928800	Weak transcription	Gastric	stomach
22	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
23	chr8:54909000-54931800	Weak transcription	Lung	lung
24	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:54909600-54923800	Weak transcription	Psoas Muscle	Psoas
27	chr8:54909800-54928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
29	chr8:54910600-54924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:54910600-54926600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:54911000-54923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:54911000-54926400	Weak transcription	HSMMtube	muscle
33	chr8:54911000-54932800	Weak transcription	NH-A	brain
34	chr8:54911200-54926600	Weak transcription	NHLF	lung
35	chr8:54911400-54926800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:54911400-54931000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:54911600-54931000	Weak transcription	Adipose Nuclei	Adipose
38	chr8:54912400-54923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:54912600-54926600	Weak transcription	Liver	Liver
40	chr8:54912600-54930800	Weak transcription	Hela-S3	cervix
41	chr8:54912600-54932800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:54914200-54926400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:54915600-54931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:54917200-54924200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:54917200-54928800	Weak transcription	Left Ventricle	heart
46	chr8:54917400-54931000	Weak transcription	Fetal Lung	lung
47	chr8:54918600-54925600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:54918600-54933400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:54918800-54924000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:54919400-54924000	Weak transcription	Primary T cells from cord blood	blood

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