Variant report

Variant	rs57139556
Chromosome Location	chr6:150998511-150998512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150997606..151001974-chr6:151004328..151007109,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12661140	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12663498	0.94[AMR][1000 genomes]
rs12664595	0.84[AMR][1000 genomes]
rs1494308	0.84[AMR][1000 genomes]
rs1552886	0.84[AMR][1000 genomes]
rs1552889	0.82[AMR][1000 genomes]
rs17080057	0.84[AMR][1000 genomes]
rs17080062	0.84[AMR][1000 genomes]
rs17080069	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17080087	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17080089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080091	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17080093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080102	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17080108	0.90[AFR][1000 genomes]
rs58824807	0.90[AFR][1000 genomes]
rs59155780	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59466561	0.90[AFR][1000 genomes]
rs62434109	0.80[AMR][1000 genomes]
rs62434110	0.84[AMR][1000 genomes]
rs62434111	0.84[AMR][1000 genomes]
rs62434119	0.84[AMR][1000 genomes]
rs62434120	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62434122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434125	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62434129	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6899782	0.90[AFR][1000 genomes]
rs6908127	0.90[AFR][1000 genomes]
rs6929935	0.81[AMR][1000 genomes]
rs73010188	0.90[AFR][1000 genomes]
rs9322273	0.86[AMR][1000 genomes]
rs9322274	0.86[AMR][1000 genomes]
rs9322275	0.81[AMR][1000 genomes]
rs9322277	0.84[AMR][1000 genomes]
rs9322278	0.81[AMR][1000 genomes]
rs9397343	0.85[AMR][1000 genomes]
rs9480514	0.89[AFR][1000 genomes]
rs9480530	0.90[AFR][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	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150975600-151002800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:150980600-151008800	Weak transcription	Gastric	stomach
3	chr6:150980800-151014800	Weak transcription	Pancreas	Pancrea
4	chr6:150987600-151002800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:150987800-151001400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:150989400-151007800	Weak transcription	Ovary	ovary
7	chr6:150990400-151003200	Weak transcription	Left Ventricle	heart
8	chr6:150990600-151002800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:150990600-151008800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:150990600-151016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:150990800-151003200	Weak transcription	Adipose Nuclei	Adipose
12	chr6:150990800-151011800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150995000-151001000	Weak transcription	Spleen	Spleen
14	chr6:150995000-151002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:150995000-151008800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:150995200-151001000	Weak transcription	Lung	lung
17	chr6:150995200-151003000	Weak transcription	Esophagus	oesophagus
18	chr6:150995200-151003400	Weak transcription	Placenta	Placenta
19	chr6:150995400-151005400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:150995400-151008800	Weak transcription	Small Intestine	intestine
21	chr6:150995600-150999600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:150995600-151006000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:150995600-151006200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:150995800-151000000	Strong transcription	Primary B cells from cord blood	blood
25	chr6:150996200-151003600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:150996600-150999000	Strong transcription	Fetal Thymus	thymus
27	chr6:150996600-151008000	Weak transcription	Fetal Intestine Large	intestine
28	chr6:150997400-150998800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:150997600-150998800	Strong transcription	Thymus	Thymus
30	chr6:150997800-150998800	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr6:150997800-151001600	Weak transcription	Fetal Kidney	kidney
32	chr6:150998000-150999000	Strong transcription	Fetal Stomach	stomach
33	chr6:150998200-151003400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:150998200-151006000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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