Variant report

Variant	rs4760146
Chromosome Location	chr12:59344678-59344679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17121768	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536158	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17537478	0.85[ASN][1000 genomes]
rs17618789	0.90[ASN][1000 genomes]
rs17625922	0.85[ASN][1000 genomes]
rs17626131	0.85[ASN][1000 genomes]
rs4760248	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55670466	0.85[ASN][1000 genomes]
rs56042852	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56225528	0.93[ASN][1000 genomes]
rs56299412	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376361	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59263143	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134004	0.82[ASN][1000 genomes]
rs767773	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955499	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668093	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs978615	0.82[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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:59341200-59345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:59343400-59345000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:59343400-59345400	Enhancers	Fetal Intestine Large	intestine
4	chr12:59343600-59345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:59343800-59345000	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:59344000-59345000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:59344200-59344800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:59344200-59344800	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr12:59344200-59345000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:59344400-59347200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:59344600-59344800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:59344600-59344800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr12:59344600-59345000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:59344600-59355000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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