Variant report

Variant	rs546700754
Chromosome Location	chr12:40867456-40867457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv1848303	chr12:40867011-40887238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1850439	chr12:40867211-40887867	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40864000-40867600	Weak transcription	Fetal Heart	heart
2	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40867000-40869000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:40867200-40868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:40867200-40870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:40867400-40867600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:40867400-40867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:40867400-40868200	Enhancers	Fetal Brain Female	brain
10	chr12:40867400-40870400	Enhancers	iPS-18 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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