Variant report

Variant	rs541037451
Chromosome Location	chr1:184987252-184987253
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:184986165-184987328	SK-N-SH	brain:	n/a	chr1:184986587-184986598
2	SPI1	chr1:184987142-184987280	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184985716..184988331-chr1:184988994..184992281,3	K562	blood:
2	chr1:184948681..184951312-chr1:184986477..184988243,2	K562	blood:
3	chr1:184986624..184988154-chr1:185012581..185015445,2	K562	blood:
4	chr1:184978593..184980252-chr1:184987075..184988788,2	MCF-7	breast:
5	chr1:184984889..184988154-chr1:185012581..185015445,4	K562	blood:
6	chr1:184977262..184980396-chr1:184986788..184988626,3	K562	blood:

No data

No data

No data

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

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522073	chr1:184986725-185013349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184984000-184987600	Enhancers	Fetal Intestine Large	intestine
2	chr1:184984600-184987400	Enhancers	K562	blood
3	chr1:184985600-184987400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:184985800-184987400	Enhancers	HMEC	breast
5	chr1:184985800-184987400	Enhancers	NHDF-Ad	bronchial
6	chr1:184985800-184987600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:184986200-184987400	Enhancers	HSMM	muscle
8	chr1:184987000-184987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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