Variant report

Variant	rs225667
Chromosome Location	chr6:142498443-142498444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142492670..142496237-chr6:142496854..142499913,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11758623	1.00[ASN][1000 genomes]
rs178783	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225601	0.93[ASN][1000 genomes]
rs225602	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs225606	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs225618	0.96[ASN][1000 genomes]
rs225622	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225623	0.81[ASN][1000 genomes]
rs225624	0.81[ASN][1000 genomes]
rs225629	0.81[ASN][1000 genomes]
rs225630	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225631	0.96[ASN][1000 genomes]
rs225632	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225633	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225634	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225635	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225636	0.96[ASN][1000 genomes]
rs225639	0.96[ASN][1000 genomes]
rs225640	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225641	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225642	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225643	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs225650	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225651	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225652	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225653	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs225654	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225655	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225656	0.85[ASN][1000 genomes]
rs225657	0.85[ASN][1000 genomes]
rs225658	1.00[ASN][1000 genomes]
rs225659	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs225660	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225661	0.92[ASN][1000 genomes]
rs225662	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225663	1.00[ASN][1000 genomes]
rs225664	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225665	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs225666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225670	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225671	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225672	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225673	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225674	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225675	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225676	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225677	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225678	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225679	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225680	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225682	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225683	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225684	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225685	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225686	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225687	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225688	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225689	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225690	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225692	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225693	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225695	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225696	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225697	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225698	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225700	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225701	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225702	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225704	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225705	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225706	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225707	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225708	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225709	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225710	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225728	0.83[ASN][1000 genomes]
rs56185739	1.00[ASN][1000 genomes]
rs62430473	0.93[ASN][1000 genomes]
rs62430506	0.85[ASN][1000 genomes]
rs628311	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs638804	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs639658	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][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	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142470200-142504000	Weak transcription	Spleen	Spleen
2	chr6:142474600-142500800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:142474800-142506800	Weak transcription	Hela-S3	cervix
4	chr6:142477200-142500600	Weak transcription	Fetal Brain Male	brain
5	chr6:142477600-142499600	Weak transcription	Stomach Mucosa	stomach
6	chr6:142483200-142499800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:142484200-142533800	Weak transcription	Aorta	Aorta
8	chr6:142484600-142510000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:142487400-142499000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:142487400-142500200	Strong transcription	Placenta	Placenta
11	chr6:142487600-142498800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr6:142487600-142499800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:142487600-142500200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:142487800-142499200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:142487800-142499400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:142487800-142502200	Strong transcription	HSMM	muscle
17	chr6:142488000-142500000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:142489000-142500400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:142489000-142543200	Weak transcription	Small Intestine	intestine
20	chr6:142489200-142507400	Weak transcription	Fetal Heart	heart
21	chr6:142489400-142500800	Weak transcription	K562	blood
22	chr6:142490400-142499000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:142490600-142499400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:142491000-142499600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:142491800-142498600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:142492000-142499200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:142492200-142524800	Weak transcription	Brain Angular Gyrus	brain
28	chr6:142493400-142499600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:142494600-142499000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:142495200-142498800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:142495200-142499000	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:142495400-142504600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:142495400-142517000	Weak transcription	NHEK	skin
34	chr6:142495600-142510400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:142495600-142513000	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:142495600-142533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:142495800-142499000	Weak transcription	HepG2	liver
38	chr6:142495800-142519600	Weak transcription	HMEC	breast
39	chr6:142496000-142500600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:142496000-142525000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:142496000-142528600	Weak transcription	Lung	lung
42	chr6:142496200-142499000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:142496200-142510400	Weak transcription	Fetal Intestine Large	intestine
44	chr6:142496200-142513200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:142496200-142514800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:142496200-142519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:142496200-142519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:142496200-142527600	Weak transcription	Thymus	Thymus
49	chr6:142496200-142528200	Weak transcription	Fetal Stomach	stomach
50	chr6:142496200-142528400	Weak transcription	Brain Germinal Matrix	brain

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