Variant report

Variant	rs73040625
Chromosome Location	chr12:9016456-9016457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55798620	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56028131	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56034097	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56273384	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56290507	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56311454	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56351182	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73038782	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73038791	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73038794	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73040654	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73047818	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73047819	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73047825	0.82[AMR][1000 genomes]
rs73047833	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73047849	0.82[AMR][1000 genomes]
rs73047850	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049949	chr12:9008609-9049198	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3338111	chr12:9014985-9019683	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3363045	chr12:9015685-9019183	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3355863	chr12:9015710-9019058	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3443454	chr12:9016110-9018958	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2603013	chr12:9016263-9018396	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3373641	chr12:9016421-9018320	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:9011800-9021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:9012600-9020400	Weak transcription	Esophagus	oesophagus
12	chr12:9013600-9019200	Weak transcription	K562	blood
13	chr12:9013600-9029400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:9013800-9033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:9016400-9016600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:9016400-9016600	Enhancers	Gastric	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