Variant report

Variant	rs17585931
Chromosome Location	chr1:216227875-216227876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10495014	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067972	1.00[ASN][1000 genomes]
rs12085945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17582573	1.00[AFR][1000 genomes]
rs17646418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216223800-216228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:216227000-216229200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216227200-216228200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:216227200-216228600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:216227400-216228400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:216227600-216228200	Enhancers	Fetal Brain Male	brain
7	chr1:216227600-216228400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:216227600-216228400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:216227600-216228400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:216227600-216228800	Enhancers	Brain Germinal Matrix	brain
11	chr1:216227800-216228000	Enhancers	Fetal Brain Female	brain
12	chr1:216227800-216228200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:216227800-216228400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:216227800-216228800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links