Variant report

Variant	rs2143121
Chromosome Location	chr1:169814548-169814549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169813665..169815297-chr1:169863390..169865357,2	K562	blood:
2	chr1:169811782..169814022-chr1:169814299..169816027,2	MCF-7	breast:
3	chr1:169811782..169814669-chr1:169816752..169818969,2	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10159425	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10489170	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10489177	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800477	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919260	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12049325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12128754	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12135656	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12135826	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12138675	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12760433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753311	0.81[ASN][1000 genomes]
rs6427223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6658548	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6670253	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679646	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6688806	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7552710	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs882595	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787237	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv872542	chr1:169802760-169844093	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
2	chr1:169764800-169818200	Weak transcription	Lung	lung
3	chr1:169764800-169823600	Weak transcription	Gastric	stomach
4	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:169765200-169814800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:169765200-169815200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:169765200-169818800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:169765200-169820600	Weak transcription	Psoas Muscle	Psoas
9	chr1:169765200-169823400	Weak transcription	Right Ventricle	heart
10	chr1:169765400-169822600	Weak transcription	Colonic Mucosa	Colon
11	chr1:169765600-169818200	Weak transcription	NHLF	lung
12	chr1:169765800-169815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:169765800-169818400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:169777400-169815400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:169784000-169814800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:169786600-169841400	Strong transcription	Dnd41	blood
18	chr1:169788600-169823600	Weak transcription	Pancreas	Pancrea
19	chr1:169789200-169818600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:169791200-169841200	Strong transcription	Fetal Thymus	thymus
21	chr1:169793800-169822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:169794000-169814800	Weak transcription	Aorta	Aorta
23	chr1:169794200-169818400	Weak transcription	NHEK	skin
24	chr1:169794800-169822000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:169797000-169818200	Weak transcription	Spleen	Spleen
26	chr1:169797600-169818200	Weak transcription	HSMMtube	muscle
27	chr1:169799200-169814800	Weak transcription	Osteobl	bone
28	chr1:169799400-169814800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:169800000-169814800	Weak transcription	HMEC	breast
30	chr1:169802200-169822600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:169802400-169821800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:169802800-169815000	Weak transcription	Hela-S3	cervix
33	chr1:169802800-169819800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:169805400-169848800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:169806400-169820600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:169806600-169860000	Weak transcription	Stomach Mucosa	stomach
37	chr1:169807000-169816600	Weak transcription	NHDF-Ad	bronchial
38	chr1:169808000-169815200	Weak transcription	Fetal Stomach	stomach
39	chr1:169808200-169819800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:169808200-169822000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:169808200-169841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:169808400-169814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:169808400-169818200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:169808400-169818400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:169808600-169814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:169808600-169821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:169808600-169827000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:169808800-169815800	Weak transcription	Thymus	Thymus
49	chr1:169808800-169816200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:169808800-169817800	Weak transcription	Fetal Brain Male	brain

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