Variant report

Variant	rs7485506
Chromosome Location	chr12:105868723-105868724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17037206	0.91[ASN][1000 genomes]
rs17037213	0.95[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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899502	chr12:105862964-105904525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
2	chr12:105867800-105872600	Enhancers	HUVEC	blood vessel
3	chr12:105868200-105869200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105868200-105869200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:105868400-105868800	Enhancers	NH-A	brain
6	chr12:105868400-105869000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:105868400-105869000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:105868400-105869000	Enhancers	HSMM	muscle
9	chr12:105868400-105869200	Enhancers	HMEC	breast
10	chr12:105868600-105869000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:105868600-105869200	Enhancers	NHEK	skin
12	chr12:105868600-105869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:105868600-105872000	Weak transcription	ES-I3 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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