Variant report

Variant	rs388987
Chromosome Location	chr6:119138624-119138625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10080855	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1087453	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1087454	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1087455	0.97[EUR][1000 genomes]
rs11153785	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12191819	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12194515	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12196440	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12197931	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12200499	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12203353	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12203542	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12210027	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12212179	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12214434	0.90[EUR][1000 genomes]
rs12216519	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1321836	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1407205	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1407206	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1539434	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs284914	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs284915	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284918	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs284920	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs376225	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3798594	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3798595	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3798599	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs409849	0.90[ASN][1000 genomes]
rs41292550	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41292554	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4946384	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56794995	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56895036	0.90[EUR][1000 genomes]
rs6935641	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6937499	0.97[EUR][1000 genomes]
rs706971	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72966811	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72966851	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72966873	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72966896	0.90[EUR][1000 genomes]
rs72970448	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs768995	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs768996	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs794606	0.93[EUR][1000 genomes]
rs794607	0.87[EUR][1000 genomes]
rs794608	0.93[EUR][1000 genomes]
rs794611	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs797017	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs811201	0.93[EUR][1000 genomes]
rs9320673	0.97[EUR][1000 genomes]
rs9481862	0.90[EUR][1000 genomes]
rs9481867	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481868	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481869	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481870	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481871	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481872	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481877	0.97[EUR][1000 genomes]
rs9481878	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9489530	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489531	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9489535	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489536	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489539	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489540	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489543	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489544	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489547	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
2	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain
5	chr6:119125600-119143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:119126200-119138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
8	chr6:119130600-119146400	Weak transcription	Psoas Muscle	Psoas
9	chr6:119130800-119143000	Weak transcription	Fetal Lung	lung
10	chr6:119132200-119143000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:119132200-119143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:119132200-119145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:119132200-119146400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:119132200-119150600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:119132400-119146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:119132400-119150800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:119132600-119141600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:119133400-119148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:119133400-119151800	Weak transcription	Fetal Kidney	kidney
20	chr6:119134000-119150600	Weak transcription	Hela-S3	cervix
21	chr6:119134200-119143600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:119134200-119143600	Weak transcription	HUVEC	blood vessel
23	chr6:119134200-119144000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:119134400-119143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:119134400-119146600	Weak transcription	Brain Anterior Caudate	brain
26	chr6:119134400-119146800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:119134400-119147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:119134400-119147000	Weak transcription	Small Intestine	intestine
29	chr6:119135000-119146600	Weak transcription	GM12878-XiMat	blood
30	chr6:119135200-119150600	Weak transcription	NHLF	lung
31	chr6:119135400-119146600	Weak transcription	HMEC	breast
32	chr6:119135400-119146600	Weak transcription	NHEK	skin
33	chr6:119135400-119146600	Weak transcription	Osteobl	bone
34	chr6:119135400-119149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:119135400-119150200	Weak transcription	Brain Substantia Nigra	brain
36	chr6:119135400-119151000	Weak transcription	NH-A	brain
37	chr6:119135400-119151400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:119135600-119142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:119135600-119146200	Weak transcription	HSMM	muscle
40	chr6:119135800-119146200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:119135800-119151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:119136800-119143600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:119137000-119143400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:119137000-119144000	Weak transcription	Brain Germinal Matrix	brain
45	chr6:119137200-119143200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:119137200-119143400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:119137200-119143600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:119137200-119143600	Weak transcription	Lung	lung
49	chr6:119137200-119143600	Weak transcription	Thymus	Thymus
50	chr6:119137200-119145800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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