Variant report

Variant	rs2204802
Chromosome Location	chr12:104399996-104399997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs167715	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs167716	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2248995	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2576943	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2583274	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2629750	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2700494	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700507	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2700517	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2722180	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2722194	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2723849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2723877	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs322104	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs322109	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs784080	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs784084	0.90[AMR][1000 genomes];0.85[EUR][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104380800-104400200	Weak transcription	NHLF	lung
3	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:104388800-104400200	Weak transcription	HSMM	muscle
11	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:104391600-104406400	Weak transcription	Ovary	ovary
13	chr12:104393000-104407400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:104393200-104400200	Weak transcription	Fetal Stomach	stomach
15	chr12:104393400-104400200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:104396600-104400200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:104397200-104401600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:104397200-104406200	Weak transcription	Aorta	Aorta
19	chr12:104398200-104400200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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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

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