Variant report

Variant	rs930015
Chromosome Location	chr12:119665503-119665504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1426629	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv275239	chr12:119662785-119666740	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119663600-119667800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:119663600-119667800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119663600-119667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:119663600-119667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:119663600-119667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:119663600-119668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119663800-119667400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:119663800-119667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:119663800-119667800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:119664000-119667800	Weak transcription	Psoas Muscle	Psoas
11	chr12:119664000-119676800	Weak transcription	Lung	lung
12	chr12:119664400-119666000	Weak transcription	Fetal Heart	heart

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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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