Variant report

Variant	rs7974214
Chromosome Location	chr12:44319517-44319518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10506232	1.00[ASN][1000 genomes]
rs10748378	0.83[EUR][1000 genomes]
rs10748379	1.00[ASN][1000 genomes]
rs10748380	1.00[ASN][1000 genomes]
rs10785462	0.83[EUR][1000 genomes]
rs10785463	0.83[EUR][1000 genomes]
rs10785466	0.83[EUR][1000 genomes]
rs10785468	0.89[EUR][1000 genomes]
rs10785469	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785470	1.00[ASN][1000 genomes]
rs10785471	1.00[ASN][1000 genomes]
rs10785472	1.00[ASN][1000 genomes]
rs10785473	1.00[ASN][1000 genomes]
rs10785474	1.00[ASN][1000 genomes]
rs10785476	0.91[ASN][1000 genomes]
rs10785477	1.00[ASN][1000 genomes]
rs10785478	1.00[ASN][1000 genomes]
rs10785479	1.00[ASN][1000 genomes]
rs10785481	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785482	0.96[ASN][1000 genomes]
rs10880578	0.81[EUR][1000 genomes]
rs10880585	0.83[EUR][1000 genomes]
rs10880586	1.00[ASN][1000 genomes]
rs10880587	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880588	1.00[ASN][1000 genomes]
rs10880589	1.00[ASN][1000 genomes]
rs10880591	1.00[ASN][1000 genomes]
rs10880597	0.96[ASN][1000 genomes]
rs10880598	0.96[ASN][1000 genomes]
rs10880599	0.96[ASN][1000 genomes]
rs10880600	0.96[ASN][1000 genomes]
rs10880601	0.96[ASN][1000 genomes]
rs10880604	0.96[ASN][1000 genomes]
rs10880605	0.96[ASN][1000 genomes]
rs11182324	0.83[EUR][1000 genomes]
rs11182325	0.83[EUR][1000 genomes]
rs11182327	1.00[ASN][1000 genomes]
rs11182329	1.00[ASN][1000 genomes]
rs11182337	1.00[ASN][1000 genomes]
rs11182339	0.96[ASN][1000 genomes]
rs11182341	0.91[ASN][1000 genomes]
rs11182346	0.96[ASN][1000 genomes]
rs11182358	0.93[ASN][1000 genomes]
rs12305959	0.96[ASN][1000 genomes]
rs12369569	1.00[ASN][1000 genomes]
rs1358705	0.81[EUR][1000 genomes]
rs1609548	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1609549	0.83[EUR][1000 genomes]
rs1610291	0.83[EUR][1000 genomes]
rs1614042	0.81[EUR][1000 genomes]
rs1622590	0.81[EUR][1000 genomes]
rs1675764	0.81[EUR][1000 genomes]
rs1675781	0.83[EUR][1000 genomes]
rs1675785	0.82[EUR][1000 genomes]
rs1675787	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1675789	0.81[EUR][1000 genomes]
rs1675790	0.81[EUR][1000 genomes]
rs1731456	0.81[EUR][1000 genomes]
rs1731458	0.81[EUR][1000 genomes]
rs1731459	0.81[EUR][1000 genomes]
rs1881926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031056	1.00[ASN][1000 genomes]
rs2407783	0.83[EUR][1000 genomes]
rs2951435	0.81[EUR][1000 genomes]
rs3925072	0.94[ASN][1000 genomes]
rs3925073	0.96[ASN][1000 genomes]
rs4238089	0.83[EUR][1000 genomes]
rs4238091	0.83[EUR][1000 genomes]
rs4238093	1.00[ASN][1000 genomes]
rs4363674	0.83[EUR][1000 genomes]
rs4417371	0.96[ASN][1000 genomes]
rs4469953	0.83[EUR][1000 genomes]
rs4537822	0.83[EUR][1000 genomes]
rs4572198	0.83[EUR][1000 genomes]
rs4572199	0.83[EUR][1000 genomes]
rs4609659	0.83[EUR][1000 genomes]
rs4768053	0.85[EUR][1000 genomes]
rs4768055	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768057	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768538	0.83[EUR][1000 genomes]
rs4768543	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768546	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5019975	0.83[EUR][1000 genomes]
rs5023324	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582490	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295151	0.85[EUR][1000 genomes]
rs73100931	1.00[ASN][1000 genomes]
rs73100935	0.90[ASN][1000 genomes]
rs73100975	0.96[ASN][1000 genomes]
rs7311847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312373	0.96[ASN][1000 genomes]
rs7955615	0.83[EUR][1000 genomes]
rs7956825	1.00[ASN][1000 genomes]
rs7957074	1.00[ASN][1000 genomes]
rs7964465	0.96[ASN][1000 genomes]
rs7965240	0.91[EUR][1000 genomes]
rs7965330	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7965873	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7971487	0.97[ASN][1000 genomes]
rs7971628	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7974501	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44311400-44324600	Weak transcription	Left Ventricle	heart
3	chr12:44315200-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44316000-44321200	Weak transcription	HSMMtube	muscle
5	chr12:44317400-44321200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:44317600-44321400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44317600-44325400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:44317800-44321600	Weak transcription	Fetal Stomach	stomach
9	chr12:44318400-44319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44319000-44324200	Weak transcription	Aorta	Aorta
11	chr12:44319000-44325600	Weak transcription	Esophagus	oesophagus

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