Variant report

Variant	rs10785476
Chromosome Location	chr12:44318633-44318634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44310016..44313786-chr12:44314229..44318943,4	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10506232	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748379	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748380	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785470	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785471	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785472	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785473	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785474	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785477	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785478	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785479	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785481	0.90[ASN][1000 genomes]
rs10785482	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880586	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880587	0.91[ASN][1000 genomes]
rs10880588	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880589	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880591	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880597	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880598	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880599	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880600	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880601	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880604	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880605	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11182326	0.83[EUR][1000 genomes]
rs11182327	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182328	0.83[EUR][1000 genomes]
rs11182329	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182337	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182339	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11182341	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11182346	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11182358	0.84[ASN][1000 genomes]
rs11829881	0.83[EUR][1000 genomes]
rs12301015	0.83[EUR][1000 genomes]
rs12303804	0.83[EUR][1000 genomes]
rs12305959	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12309681	0.83[EUR][1000 genomes]
rs12369569	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1881926	0.91[ASN][1000 genomes]
rs1881927	0.91[ASN][1000 genomes]
rs2031056	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3925072	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3925073	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4238092	0.83[EUR][1000 genomes]
rs4238093	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4417371	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768055	0.91[ASN][1000 genomes]
rs4768057	0.85[ASN][1000 genomes]
rs4768544	0.85[EUR][1000 genomes]
rs4768546	0.88[ASN][1000 genomes]
rs5023324	0.88[ASN][1000 genomes]
rs6582490	0.88[ASN][1000 genomes]
rs73100931	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73100935	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73100975	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7311847	0.91[ASN][1000 genomes]
rs7312373	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956825	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7957074	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7964465	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7965873	0.88[ASN][1000 genomes]
rs7969641	0.83[EUR][1000 genomes]
rs7971487	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7971628	0.88[ASN][1000 genomes]
rs7974214	0.91[ASN][1000 genomes]
rs7974501	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	chr12:44318600-44318800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:44318600-44319000	ZNF genes & repeats	Esophagus	oesophagus

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