Variant report

Variant	rs498488
Chromosome Location	chr2:169676884-169676885
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	chr2:169675392..169677475-chr2:169677807..169680088,2	K562	blood:
2	chr2:169675030..169679300-chr2:169679665..169684286,7	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17265731	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17265949	0.89[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2010230	0.89[ASN][1000 genomes]
rs2433679	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433680	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2433681	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2461362	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461363	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2461390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494120	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551037	0.89[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs553827	0.89[ASN][1000 genomes]
rs6433093	0.89[ASN][1000 genomes]
rs829955	0.89[ASN][1000 genomes]
rs829960	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830025	1.00[ASN][1000 genomes]
rs830026	1.00[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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
3	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
5	chr2:169673000-169678400	Strong transcription	Fetal Intestine Large	intestine
6	chr2:169673400-169679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
8	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
9	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
10	chr2:169673400-169692200	Weak transcription	Gastric	stomach
11	chr2:169675400-169677200	Enhancers	Fetal Heart	heart
12	chr2:169675600-169678800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:169675800-169677000	Genic enhancers	Left Ventricle	heart
14	chr2:169676000-169677000	Genic enhancers	Lung	lung
15	chr2:169676000-169677800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:169676200-169677000	Enhancers	Brain Angular Gyrus	brain
17	chr2:169676200-169677000	Enhancers	Brain Anterior Caudate	brain
18	chr2:169676200-169677000	Enhancers	Fetal Thymus	thymus
19	chr2:169676200-169677000	Enhancers	Right Atrium	heart
20	chr2:169676400-169677600	Strong transcription	K562	blood
21	chr2:169676400-169687200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:169676600-169677000	Enhancers	HMEC	breast
23	chr2:169676600-169679000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:169676600-169687400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:169676800-169678400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:169676800-169680200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links