Variant report

Variant	rs7622741
Chromosome Location	chr3:81550315-81550316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1031265	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12233618	0.80[ASN][1000 genomes]
rs12631775	0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12633695	0.83[ASN][1000 genomes]
rs12634278	0.81[ASN][1000 genomes]
rs12637192	0.87[CHB][hapmap]
rs12638726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13059815	0.94[CEU][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13063700	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13082939	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs13086984	0.89[CEU][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13087181	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs13088641	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13092113	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs13097903	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1381302	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1381303	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1461606	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17018940	0.85[ASN][1000 genomes]
rs17019039	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17019042	0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2307058	0.94[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2639611	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34031239	0.81[ASN][1000 genomes]
rs34567512	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35058426	0.93[ASN][1000 genomes]
rs59299387	0.90[ASN][1000 genomes]
rs6768592	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs6768895	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6769105	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6769140	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6769230	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6773695	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6783132	0.80[ASN][1000 genomes]
rs6785586	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6785960	0.83[ASN][1000 genomes]
rs6798069	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6798900	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6800241	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6805105	0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7613144	0.94[CEU][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7615728	0.92[ASN][1000 genomes]
rs7616817	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7618973	0.83[CHD][hapmap]
rs7631349	0.94[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7637268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7649028	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs820275	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9811029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9811835	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9815059	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9818063	0.92[ASN][1000 genomes]
rs9820815	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9845467	0.83[CHD][hapmap]
rs9853643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9862299	0.81[TSI][hapmap]
rs9867226	0.93[ASN][1000 genomes]
rs9871529	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934018	chr3:81413060-81655338	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933756	chr3:81413060-81754738	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1003217	chr3:81435044-81752521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv933259	chr3:81523854-81730617	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv999587	chr3:81534364-81707800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv536603	chr3:81534364-81707800	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7622741	MEST	trans	lymphoblastoid	seeQTL
rs7622741	CACNA1F	trans	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81535200-81553000	Weak transcription	Aorta	Aorta
2	chr3:81535200-81555600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:81535200-81563200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:81535200-81566800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:81535400-81565600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:81535400-81579400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:81535600-81579400	Weak transcription	HUVEC	blood vessel
8	chr3:81539400-81553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:81540400-81553000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:81540400-81579600	Weak transcription	Right Ventricle	heart
11	chr3:81541800-81568200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:81541800-81579600	Weak transcription	Ovary	ovary
13	chr3:81542000-81551400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:81542000-81568000	Weak transcription	Osteobl	bone
15	chr3:81543000-81552800	Weak transcription	Lung	lung
16	chr3:81545000-81550400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:81545200-81550400	Strong transcription	Dnd41	blood
18	chr3:81545400-81554600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:81545600-81557800	Weak transcription	HSMMtube	muscle
20	chr3:81546200-81560400	Weak transcription	Hela-S3	cervix
21	chr3:81546400-81557400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:81546400-81581000	Weak transcription	NHLF	lung
23	chr3:81546600-81565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:81546600-81578000	Weak transcription	HSMM	muscle
25	chr3:81546800-81553000	Weak transcription	Adipose Nuclei	Adipose
26	chr3:81547400-81579800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:81547800-81552200	Weak transcription	NHDF-Ad	bronchial
28	chr3:81548200-81579400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:81548400-81551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:81548600-81565200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:81548600-81580400	Weak transcription	Psoas Muscle	Psoas
32	chr3:81549000-81555800	Weak transcription	Liver	Liver
33	chr3:81549600-81550800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:81550000-81551000	Strong transcription	Left Ventricle	heart
35	chr3:81550000-81579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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