Variant report

Variant	rs56302550
Chromosome Location	chr8:90749040-90749041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10504882	1.00[ASN][1000 genomes]
rs10504883	0.90[ASN][1000 genomes]
rs16900025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16900480	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16900484	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16900581	0.90[ASN][1000 genomes]
rs16900589	0.90[ASN][1000 genomes]
rs16900592	0.90[ASN][1000 genomes]
rs16900617	0.90[ASN][1000 genomes]
rs16900677	0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55697113	0.90[ASN][1000 genomes]
rs55702923	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55881928	0.90[ASN][1000 genomes]
rs55914077	1.00[ASN][1000 genomes]
rs55945927	0.95[ASN][1000 genomes]
rs56118532	1.00[ASN][1000 genomes]
rs56275901	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56716125	1.00[ASN][1000 genomes]
rs56793332	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57701764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58330617	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58972679	1.00[ASN][1000 genomes]
rs59312383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59581432	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59678171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59924471	0.90[ASN][1000 genomes]
rs59941801	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	1.00[ASN][1000 genomes]
rs60327583	0.87[ASN][1000 genomes]
rs60651842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60691618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60772522	1.00[ASN][1000 genomes]
rs60959735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61017576	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61044501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61258433	0.90[ASN][1000 genomes]
rs61450435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61662505	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998044	1.00[ASN][1000 genomes]
rs7010806	1.00[ASN][1000 genomes]
rs73694459	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694485	0.95[ASN][1000 genomes]
rs73694486	0.95[ASN][1000 genomes]
rs73694487	0.90[ASN][1000 genomes]
rs73694488	0.90[ASN][1000 genomes]
rs73694490	0.90[ASN][1000 genomes]
rs73694492	0.90[ASN][1000 genomes]
rs73694493	0.90[ASN][1000 genomes]
rs73694496	0.85[ASN][1000 genomes]
rs7817339	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7829418	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839470	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7839478	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9721216	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:90742600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:90742600-90749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:90742800-90749200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
11	chr8:90743000-90749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:90743200-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:90745000-90754600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:90748000-90749600	Enhancers	Stomach Mucosa	stomach
16	chr8:90748400-90749200	Weak transcription	Left Ventricle	heart
17	chr8:90748400-90750000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:90748400-90758200	Weak transcription	Ovary	ovary
19	chr8:90748600-90749400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:90749000-90749200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:90749000-90749200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:90749000-90749200	Enhancers	Right Ventricle	heart
23	chr8:90749000-90749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:90749000-90749600	Enhancers	Gastric	stomach
25	chr8:90749000-90749600	Enhancers	Lung	lung
26	chr8:90749000-90749800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:90749000-90749800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:90749000-90750000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:90749000-90750000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:90749000-90750400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:90749000-90751800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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