Variant report

Variant	rs17757816
Chromosome Location	chr12:12220638-12220639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17757828	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17757816	GPRC5D	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12209600-12224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:12217000-12223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:12217600-12223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12217800-12223800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:12217800-12223800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:12220200-12221200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:12220200-12222400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:12220400-12221400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr12:12220600-12220800	Bivalent Enhancer	HepG2	liver
10	chr12:12220600-12221200	Enhancers	Stomach Mucosa	stomach

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