Variant report

Variant	rs4242574
Chromosome Location	chr8:118801521-118801522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10087589	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10092227	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10096731	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100591	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10105902	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112692	0.88[EUR][1000 genomes]
rs10955828	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11523025	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11523026	0.85[EUR][1000 genomes]
rs13267691	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268974	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28402169	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28445908	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28507251	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28530633	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28536582	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613657	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28671186	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28709368	0.87[EUR][1000 genomes]
rs28835915	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4481632	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4601352	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4876385	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4876743	0.87[EUR][1000 genomes]
rs4876744	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4876745	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876746	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4876747	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876749	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876752	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56257079	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469709	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6469710	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720896	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836773	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837683	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297569	0.88[EUR][1000 genomes]
rs9297570	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9297571	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9642836	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9643116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9656921	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933429	chr8:118798533-118812170	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118751400-118805400	Weak transcription	NHLF	lung
2	chr8:118777800-118802200	Weak transcription	NHDF-Ad	bronchial
3	chr8:118784000-118804200	Weak transcription	NH-A	brain
4	chr8:118784600-118801600	Weak transcription	Aorta	Aorta
5	chr8:118787200-118805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:118795800-118805600	Weak transcription	Liver	Liver
7	chr8:118796000-118804200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:118799600-118805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118799600-118806400	Weak transcription	HSMMtube	muscle
10	chr8:118799600-118809000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:118800000-118805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:118800000-118806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118800000-118816400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:118800200-118815800	Weak transcription	Esophagus	oesophagus
15	chr8:118800400-118803400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:118800600-118805800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:118800800-118802800	Strong transcription	HSMM	muscle
19	chr8:118801000-118802000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:118801000-118803200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:118801200-118801600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:118801200-118801600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr8:118801200-118801600	ZNF genes & repeats	Fetal Brain Male	brain
25	chr8:118801200-118801600	ZNF genes & repeats	Ovary	ovary
26	chr8:118801200-118803400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:118801200-118806200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:118801400-118801600	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:118801400-118801800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:118801400-118801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:118801400-118805200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:118801400-118808200	Strong transcription	Osteobl	bone
33	chr8:118801400-118811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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