Variant report

Variant	rs284918
Chromosome Location	chr6:119151172-119151173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10080855	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1087453	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1087454	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1087455	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11153785	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12191490	0.89[ASN][1000 genomes]
rs12191819	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12194515	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196440	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12197931	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200499	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12203353	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12203542	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12206826	0.91[ASN][1000 genomes]
rs12210027	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12212179	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12214434	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12216519	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1321836	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1407205	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407206	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539434	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2357022	0.80[EUR][1000 genomes]
rs284914	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284915	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284916	0.89[ASN][1000 genomes]
rs284920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376225	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798594	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798595	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798599	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs388987	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs409849	0.90[ASN][1000 genomes]
rs41292550	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41292554	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4946384	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56895036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935641	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937499	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs706971	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72966811	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72966851	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72966873	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72966896	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72970448	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs768995	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs768996	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794250	0.80[EUR][1000 genomes]
rs794252	0.80[EUR][1000 genomes]
rs794253	0.80[EUR][1000 genomes]
rs794254	0.80[EUR][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs794607	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs794611	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs797002	0.80[EUR][1000 genomes]
rs797017	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs811201	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9320673	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9481862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9481867	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481868	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481869	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481870	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481871	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481872	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481877	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9481878	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9489530	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9489531	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489535	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489536	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489537	0.91[ASN][1000 genomes]
rs9489539	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489540	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489541	0.92[ASN][1000 genomes]
rs9489543	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489544	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489547	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
2	chr6:119133400-119151800	Weak transcription	Fetal Kidney	kidney
3	chr6:119135400-119151400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:119143400-119151200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:119144200-119154400	Weak transcription	Brain Germinal Matrix	brain
6	chr6:119144600-119151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:119144800-119152000	Weak transcription	Spleen	Spleen
8	chr6:119144800-119160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:119144800-119173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:119146400-119151200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr6:119147400-119154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:119147600-119151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:119147600-119151800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:119147600-119152000	Weak transcription	Right Ventricle	heart
15	chr6:119147600-119152000	Weak transcription	NHEK	skin
16	chr6:119147600-119197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:119147800-119154200	Weak transcription	Stomach Mucosa	stomach
18	chr6:119147800-119155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:119147800-119160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:119147800-119162600	Weak transcription	Lung	lung
21	chr6:119147800-119164800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:119147800-119167600	Weak transcription	Psoas Muscle	Psoas
23	chr6:119147800-119182000	Weak transcription	Gastric	stomach
24	chr6:119148200-119151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:119148200-119176000	Weak transcription	HSMM	muscle
26	chr6:119149200-119164800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:119149200-119164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:119149400-119151200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:119149400-119151200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:119149400-119151200	Weak transcription	HMEC	breast
31	chr6:119149400-119151800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:119149400-119157000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:119149400-119160600	Weak transcription	Thymus	Thymus
34	chr6:119149400-119165400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:119149400-119168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:119149400-119177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:119149400-119180600	Weak transcription	Small Intestine	intestine
38	chr6:119149600-119151200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:119149600-119151800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:119149600-119151800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:119149600-119151800	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:119149800-119151600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:119149800-119169600	Weak transcription	Fetal Lung	lung
44	chr6:119150000-119151600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:119150000-119151600	Weak transcription	HepG2	liver
46	chr6:119150000-119151800	Weak transcription	HSMMtube	muscle
47	chr6:119150000-119154000	Weak transcription	Osteobl	bone
48	chr6:119150000-119165200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:119150200-119151800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:119150200-119152000	Weak transcription	Placenta	Placenta

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