Variant report

Variant	rs56208649
Chromosome Location	chr12:116853233-116853234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116851902..116854715-chr12:116856718..116858455,2	K562	blood:
2	chr12:116850964..116853402-chr12:116856955..116858465,2	K562	blood:
3	chr12:116852964..116855538-chr12:116892143..116894381,2	K562	blood:
4	chr12:116714305..116716421-chr12:116851573..116854711,3	MCF-7	breast:
5	chr12:116840109..116842715-chr12:116852783..116854529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55668932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60047044	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60109929	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73201961	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73204026	0.90[ASN][1000 genomes]
rs73204034	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73204040	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204041	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204046	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204048	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204049	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204053	0.92[EUR][1000 genomes];0.93[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	esv3445206	chr12:116851569-116854667	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3429017	chr12:116851669-116854667	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116842400-116853400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:116844800-116862400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:116849000-116853800	Weak transcription	A549	lung
4	chr12:116849000-116854000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:116849000-116858200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:116849200-116854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:116849200-116858000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:116849600-116853600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:116849800-116854000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:116850000-116860600	Weak transcription	NHDF-Ad	bronchial
11	chr12:116852400-116854600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:116852800-116853600	Active TSS	Fetal Kidney	kidney
13	chr12:116852800-116853800	Enhancers	Fetal Brain Male	brain
14	chr12:116853000-116853600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:116853000-116853800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:116853000-116854200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:116853000-116854800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:116853200-116853600	Enhancers	Spleen	Spleen
19	chr12:116853200-116853800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:116853200-116854400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:116853200-116855000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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