Variant report

Variant	rs554653749
Chromosome Location	chr4:130065928-130065929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv511266	chr4:130060230-130072652	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3464537	chr4:130064302-130070200	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3464535	chr4:130065027-130069375	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3412616	chr4:130065202-130069600	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv595400	chr4:130065359-130068258	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3441296	chr4:130065502-130069450	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv822719	chr4:130065523-130068581	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3464536	chr4:130065713-130068808	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3464538	chr4:130065713-130068808	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
13	nsv820801	chr4:130065790-130068581	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
2	chr4:130065800-130066000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:130065800-130066200	Active TSS	Adipose Nuclei	Adipose
4	chr4:130065800-130066200	Bivalent Enhancer	Left Ventricle	heart
5	chr4:130065800-130066200	Enhancers	HUVEC	blood vessel
6	chr4:130065800-130066200	Flanking Active TSS	K562	blood
7	chr4:130065800-130066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:130065800-130066800	Enhancers	HUES6 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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