Variant report

Variant	rs72857193
Chromosome Location	chr11:10030495-10030496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11826263	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828592	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12785752	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907355	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907375	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16907385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907405	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907414	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907422	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907424	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907460	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16907505	0.95[EUR][1000 genomes]
rs16907507	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16907525	0.84[EUR][1000 genomes]
rs17272637	1.00[ASN][1000 genomes]
rs17272751	1.00[ASN][1000 genomes]
rs17294511	0.84[EUR][1000 genomes]
rs17357710	1.00[ASN][1000 genomes]
rs2278629	0.84[EUR][1000 genomes]
rs2278631	0.84[EUR][1000 genomes]
rs4472930	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4515960	0.84[EUR][1000 genomes]
rs4601768	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650931	0.84[EUR][1000 genomes]
rs55797397	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823443	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55865301	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55905435	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55955707	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173862	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203621	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56223901	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56244748	0.84[EUR][1000 genomes]
rs56272536	0.93[EUR][1000 genomes]
rs56275118	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56374204	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56379921	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409115	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66593106	0.81[EUR][1000 genomes]
rs66803065	0.92[ASN][1000 genomes]
rs67446631	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68010460	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857111	1.00[ASN][1000 genomes]
rs72857124	1.00[ASN][1000 genomes]
rs72857130	1.00[ASN][1000 genomes]
rs72857132	1.00[ASN][1000 genomes]
rs72857147	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72857149	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857152	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857155	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858804	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858828	1.00[ASN][1000 genomes]
rs72858835	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858836	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858837	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858840	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858841	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858842	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858845	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858870	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860505	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860544	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860557	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860561	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860566	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72861704	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72861713	0.84[EUR][1000 genomes]
rs72861720	0.84[EUR][1000 genomes]
rs72861722	0.84[EUR][1000 genomes]
rs72861724	0.84[EUR][1000 genomes]
rs72861731	0.84[EUR][1000 genomes]
rs72861743	0.84[EUR][1000 genomes]
rs72861747	0.84[EUR][1000 genomes]
rs72861754	0.84[EUR][1000 genomes]
rs72861755	0.84[EUR][1000 genomes]
rs72861758	0.84[EUR][1000 genomes]
rs72861773	0.84[EUR][1000 genomes]
rs72861780	0.81[EUR][1000 genomes]
rs72861781	0.81[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv553475	chr11:10019879-10059623	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
2	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
3	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:9994800-10041800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:10001400-10066200	Weak transcription	Pancreas	Pancrea
6	chr11:10004200-10048600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:10007600-10041800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:10010600-10051200	Weak transcription	Ovary	ovary
9	chr11:10012600-10049000	Weak transcription	Fetal Kidney	kidney
10	chr11:10018000-10031400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:10021000-10031400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:10022600-10032400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:10023800-10033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:10024200-10047800	Weak transcription	Osteobl	bone
15	chr11:10024600-10041600	Weak transcription	HUVEC	blood vessel
16	chr11:10024800-10054000	Weak transcription	Hela-S3	cervix
17	chr11:10027600-10030800	ZNF genes & repeats	Fetal Stomach	stomach
18	chr11:10027800-10030600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr11:10028800-10030600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:10029000-10030600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:10029000-10030600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:10029200-10030600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:10029200-10030600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:10030000-10030600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:10030000-10030800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr11:10030200-10030600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:10030200-10030600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:10030400-10031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:10030400-10032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:10030400-10034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:10030400-10042600	Weak transcription	Fetal Lung	lung

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