Variant report

Variant	rs181043316
Chromosome Location	chr2:10090184-10090185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:10089527-10090185	HepG2	liver:	n/a	n/a
2	MAX	chr2:10089602-10092724	HepG2	liver:	n/a	n/a
3	MAX	chr2:10089567-10092486	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:10089795-10090228	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9768803..9771575-chr2:10089760..10091656,2	MCF-7	breast:
2	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
5	chr2:10089749..10091694-chr2:10096424..10099200,2	K562	blood:
6	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
7	chr2:9962243..9964669-chr2:10088779..10091216,2	MCF-7	breast:
8	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
9	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
10	chr2:10090081..10091760-chr2:10195035..10197397,2	K562	blood:
11	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
12	chr2:10085922..10087593-chr2:10089321..10091253,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000115750	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3409366	chr2:10090126-10092874	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10082000-10090800	Weak transcription	HMEC	breast
2	chr2:10082400-10090200	Weak transcription	Gastric	stomach
3	chr2:10082600-10090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:10084800-10090200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:10085800-10090600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:10086000-10090800	Weak transcription	Pancreas	Pancrea
7	chr2:10086200-10090800	Weak transcription	Right Atrium	heart
8	chr2:10088800-10090800	Enhancers	Spleen	Spleen
9	chr2:10089600-10090200	Flanking Active TSS	HepG2	liver
10	chr2:10089800-10090200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:10089800-10090600	Enhancers	Hela-S3	cervix
12	chr2:10089800-10091000	Enhancers	Lung	lung
13	chr2:10090000-10090400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr2:10090000-10090400	Active TSS	Esophagus	oesophagus
15	chr2:10090000-10090400	Enhancers	Placenta	Placenta
16	chr2:10090000-10090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:10090000-10090600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10090000-10090800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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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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