Variant report

Variant	rs1050523
Chromosome Location	chr8:54879283-54879284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:54879219-54879523	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54877707..54880329-chr8:54891342..54894324,2	K562	blood:

Variant related genes	Relation type
ENSG00000253667	TF binding region

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

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10101097	0.88[ASN][1000 genomes]
rs10113246	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap]
rs10504161	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs10958396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10958397	0.87[CHB][hapmap]
rs11783652	0.82[CHB][hapmap]
rs11986577	1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.94[ASN][1000 genomes]
rs11991952	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs11993367	0.90[ASN][1000 genomes]
rs11993959	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs11994629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs11996666	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997954	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056381	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12114043	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs12674671	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676510	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677696	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679542	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs16919699	0.80[CHB][hapmap]
rs16919782	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs16919784	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs1828835	0.83[ASN][1000 genomes]
rs2037068	0.90[ASN][1000 genomes]
rs2271567	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap]
rs2292590	0.91[CEU][hapmap];0.87[CHB][hapmap];0.92[YRI][hapmap]
rs2375697	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28494618	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4440612	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.96[ASN][1000 genomes]
rs4506187	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4515510	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737457	0.90[ASN][1000 genomes]
rs4737479	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs4737486	0.83[ASN][1000 genomes]
rs4737487	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap]
rs4737488	1.00[CHB][hapmap]
rs4738519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738544	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4738556	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738586	0.96[ASN][1000 genomes]
rs57872947	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58387069	0.83[ASN][1000 genomes]
rs58419852	0.83[ASN][1000 genomes]
rs58929175	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58948369	0.82[ASN][1000 genomes]
rs59882028	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60183530	0.83[ASN][1000 genomes]
rs61319412	0.97[ASN][1000 genomes]
rs6473900	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473909	0.80[ASN][1000 genomes]
rs6473911	0.87[CHB][hapmap]
rs6473914	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs6473915	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs6983694	0.83[ASN][1000 genomes]
rs7009781	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011379	0.82[ASN][1000 genomes]
rs7012031	0.87[CHB][hapmap];0.84[GIH][hapmap]
rs72614663	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72614664	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72614665	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72614666	0.83[ASN][1000 genomes]
rs72614667	0.83[ASN][1000 genomes]
rs72614668	0.81[ASN][1000 genomes]
rs7463083	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs7463261	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7464767	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815216	0.95[ASN][1000 genomes]
rs7842911	0.93[CHB][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs9298497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs9643823	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643824	0.96[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
3	chr8:54859600-54885400	Weak transcription	K562	blood
4	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
5	chr8:54866800-54885200	Weak transcription	NH-A	brain
6	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
8	chr8:54867000-54884800	Weak transcription	HUVEC	blood vessel
9	chr8:54868200-54895600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:54870600-54879400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:54871400-54891000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:54871400-54898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
14	chr8:54871800-54880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:54872000-54892400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:54872200-54881000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:54872800-54898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:54873000-54895600	Weak transcription	Colonic Mucosa	Colon
19	chr8:54873400-54893600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:54873600-54894600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:54873600-54898000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:54873800-54883800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:54873800-54885200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:54873800-54891000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:54873800-54891000	Weak transcription	NHLF	lung
26	chr8:54873800-54897400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:54873800-54897800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:54873800-54899800	Weak transcription	Right Ventricle	heart
29	chr8:54874000-54881000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:54874000-54884600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:54874000-54891200	Weak transcription	Esophagus	oesophagus
32	chr8:54874000-54891200	Weak transcription	Fetal Brain Female	brain
33	chr8:54874000-54896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:54874000-54898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:54874000-54898000	Weak transcription	Aorta	Aorta
36	chr8:54874200-54881200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:54874200-54882200	Weak transcription	Fetal Lung	lung
38	chr8:54874200-54891000	Weak transcription	Brain Anterior Caudate	brain
39	chr8:54874400-54881000	Weak transcription	A549	lung
40	chr8:54874400-54883800	Weak transcription	Thymus	Thymus
41	chr8:54874400-54884600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:54874400-54886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:54874400-54890600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:54874400-54890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:54874400-54891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:54874400-54895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:54874400-54897200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:54874600-54880800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:54874600-54881000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:54874600-54881000	Weak transcription	Fetal Thymus	thymus

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