Variant report

Variant	rs558978503
Chromosome Location	chr8:124203593-124203594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:124203388-124203820	MCF-7	breast:	n/a	n/a
2	RAD21	chr8:124203537-124203783	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:124202701-124204077	K562	blood:	n/a	n/a
4	POLR2A	chr8:124202886-124206704	K562	blood:	n/a	n/a
5	CTCF	chr8:124203547-124203699	HepG2	liver:	n/a	n/a
6	CTCF	chr8:124203582-124203705	HepG2	liver:	n/a	n/a
7	CTCF	chr8:124203500-124203650	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:124203373-124203829	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:124202895-124203668	K562	blood:	n/a	n/a
10	RAD21	chr8:124203452-124203793	HepG2	liver:	n/a	n/a
11	RAD21	chr8:124203497-124203740	HepG2	liver:	n/a	n/a
12	USF1	chr8:124202962-124203654	K562	blood:	n/a	chr8:124203282-124203293 chr8:124203212-124203223
13	CTCF	chr8:124203520-124203670	HMEC	breast:	n/a	n/a
14	POLR2A	chr8:124202770-124204167	K562	blood:	n/a	n/a
15	RAD21	chr8:124203304-124203944	MCF-7	breast:	n/a	chr8:124203922-124203932 chr8:124203920-124203932
16	NFYB	chr8:124203138-124203595	K562	blood:	n/a	n/a
17	POLR2A	chr8:124202932-124204239	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124202410..124205099-chr8:124250791..124252752,2	K562	blood:
2	chr8:124202299..124204634-chr8:124227331..124230067,2	K562	blood:
3	chr8:124202911..124204464-chr8:124210784..124212515,2	K562	blood:
4	chr8:124193731..124198397-chr8:124202096..124205086,5	MCF-7	breast:
5	chr8:124172170..124173373-chr8:124203108..124203740,5	MCF-7	breast:
6	chr8:124202642..124205088-chr8:124211959..124213771,2	MCF-7	breast:
7	chr8:124172226..124173291-chr8:124203205..124204142,6	MCF-7	breast:
8	chr8:124034586..124035350-chr8:124203347..124204148,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000253410	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000266324	Chromatin interaction
ENSG00000253258	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers 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 miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3412283	chr8:124202171-124206869	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124199800-124206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:124201000-124205200	Genic enhancers	K562	blood
5	chr8:124201600-124205000	Weak transcription	Esophagus	oesophagus
6	chr8:124201600-124212600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:124201600-124216000	Strong transcription	NHEK	skin
8	chr8:124201600-124216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:124202800-124211600	Strong transcription	HMEC	breast
10	chr8:124203000-124205200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:124203000-124206200	Genic enhancers	Hela-S3	cervix

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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