Variant report

Variant	rs7313450
Chromosome Location	chr12:104778154-104778155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10746000	0.81[ASN][1000 genomes]
rs11112036	0.81[ASN][1000 genomes]
rs6539149	0.83[ASN][1000 genomes]
rs7956065	0.81[ASN][1000 genomes]
rs7958283	0.83[ASN][1000 genomes]
rs7958404	0.81[ASN][1000 genomes]
rs7961423	0.83[ASN][1000 genomes]
rs7962470	0.85[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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104766000-104778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104771800-104781000	Weak transcription	Aorta	Aorta
3	chr12:104775800-104781000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:104776000-104779200	Weak transcription	NHEK	skin
5	chr12:104776200-104779200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:104776200-104779400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:104776200-104781000	Weak transcription	Right Atrium	heart
8	chr12:104776400-104779400	Weak transcription	Lung	lung
9	chr12:104776400-104779400	Weak transcription	Ovary	ovary
10	chr12:104776400-104779600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:104776400-104781000	Weak transcription	Fetal Heart	heart
12	chr12:104776400-104782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104777800-104778200	Enhancers	A549	lung

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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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