Variant report

Variant	rs6805732
Chromosome Location	chr3:142857875-142857876
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142847512..142849517-chr3:142856776..142858672,2	K562	blood:
2	chr3:142851820..142854133-chr3:142856452..142858967,2	MCF-7	breast:
3	chr3:142850270..142855258-chr3:142857254..142859835,5	K562	blood:
4	chr3:142841738..142844491-chr3:142857167..142859995,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10084718	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1056360	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1134685	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11711866	0.88[EUR][1000 genomes]
rs11718140	0.86[CEU][hapmap]
rs11719768	0.90[EUR][1000 genomes]
rs12635534	0.93[ASN][1000 genomes]
rs1597389	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16853045	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900994	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900995	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683448	0.86[CEU][hapmap]
rs4683449	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs4683451	0.94[EUR][1000 genomes]
rs4683454	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683455	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683741	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4683743	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683744	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683745	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683746	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683747	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683748	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6440136	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6440137	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440141	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6440142	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66726727	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67496487	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67627912	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6770489	0.86[CEU][hapmap]
rs6780752	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6789472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794836	0.86[CEU][hapmap]
rs6801537	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[EUR][1000 genomes]
rs68171708	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726737	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159623	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs735564	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6805732	MESP1	cis	Frontal Cortex	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
2	chr3:142844800-142858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:142845800-142858200	Weak transcription	Fetal Brain Male	brain
4	chr3:142853400-142870600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:142853600-142873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:142853800-142858400	Weak transcription	K562	blood
7	chr3:142854400-142858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:142854600-142858400	Weak transcription	Psoas Muscle	Psoas
9	chr3:142854800-142858000	Weak transcription	Fetal Brain Female	brain
10	chr3:142854800-142858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:142854800-142865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:142855000-142858000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:142855000-142858400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:142855000-142858600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:142855000-142858600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:142855000-142858600	Weak transcription	HMEC	breast
17	chr3:142855000-142858600	Weak transcription	NHEK	skin
18	chr3:142855000-142858600	Weak transcription	Osteobl	bone
19	chr3:142855600-142858000	Weak transcription	NHLF	lung
20	chr3:142855600-142858200	Weak transcription	HUVEC	blood vessel
21	chr3:142856600-142858600	Enhancers	Dnd41	blood
22	chr3:142856600-142859600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:142857400-142858600	Enhancers	Fetal Lung	lung
24	chr3:142857400-142858800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:142857800-142858000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:142857800-142858000	Enhancers	Right Ventricle	heart
27	chr3:142857800-142858200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:142857800-142859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:142857800-142859000	Enhancers	Left Ventricle	heart
30	chr3:142857800-142859000	Enhancers	Lung	lung
31	chr3:142857800-142859200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:142857800-142859200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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