Variant report

Variant	rs12216519
Chromosome Location	chr6:119122915-119122916
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10080855	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1087453	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1087454	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1087455	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11153785	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12191490	0.97[ASN][1000 genomes]
rs12191819	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12194515	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12196440	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12197931	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200499	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203353	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203542	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206826	0.83[ASN][1000 genomes]
rs12207299	0.80[ASN][1000 genomes]
rs12210027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214434	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321836	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1407205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407206	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1539434	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17080617	0.81[ASN][1000 genomes]
rs17080626	0.82[ASN][1000 genomes]
rs2005303	0.82[ASN][1000 genomes]
rs284914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284915	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284916	0.97[ASN][1000 genomes]
rs284918	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284920	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs376225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798595	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs388987	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs409849	0.86[ASN][1000 genomes]
rs41292550	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41292554	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4946384	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56895036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6910327	0.80[ASN][1000 genomes]
rs6935641	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6937499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs706971	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72966811	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72966851	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72966873	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72966896	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72970448	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs768995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs768996	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs794607	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs794611	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs797017	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs811201	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9320673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9481862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481867	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481868	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481869	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481870	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481871	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481872	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481877	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9481878	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9489526	0.81[ASN][1000 genomes]
rs9489530	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489535	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489536	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489537	0.83[ASN][1000 genomes]
rs9489539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489540	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489541	0.84[ASN][1000 genomes]
rs9489543	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489544	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs962393	0.81[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	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription 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	16 gene(s)	inside rSNPs	diseases
5	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
2	chr6:119113800-119136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119116600-119136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:119117800-119125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:119121800-119129800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:119121800-119130600	Weak transcription	Right Atrium	heart
7	chr6:119121800-119133000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:119121800-119134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:119121800-119134000	Weak transcription	HSMM	muscle
10	chr6:119121800-119134000	Weak transcription	Osteobl	bone
11	chr6:119121800-119136000	Weak transcription	Fetal Intestine Large	intestine
12	chr6:119122000-119124800	Weak transcription	NHEK	skin
13	chr6:119122000-119136400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
15	chr6:119122200-119124000	Weak transcription	Spleen	Spleen
16	chr6:119122200-119124800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:119122200-119124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:119122200-119124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:119122200-119130400	Weak transcription	Placenta	Placenta
20	chr6:119122200-119130400	Weak transcription	K562	blood
21	chr6:119122200-119131800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:119122200-119133000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:119122200-119135000	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:119122200-119136000	Weak transcription	Fetal Intestine Small	intestine
25	chr6:119122200-119136000	Weak transcription	Fetal Stomach	stomach
26	chr6:119122200-119136200	Weak transcription	Esophagus	oesophagus
27	chr6:119122200-119136600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:119122400-119123000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:119122400-119124400	Weak transcription	Fetal Brain Male	brain
31	chr6:119122400-119124400	Weak transcription	Left Ventricle	heart
32	chr6:119122400-119125600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:119122400-119126000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:119122400-119128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:119122400-119129600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:119122400-119136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:119122400-119136000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:119122400-119136200	Weak transcription	Pancreas	Pancrea
39	chr6:119122400-119136200	Weak transcription	HepG2	liver
40	chr6:119122400-119136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:119122600-119136200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain

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