Variant report

Variant	rs113396106
Chromosome Location	chr6:27218124-27218125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
2	POLR2A	chr6:27217747-27220268	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:27218053-27220057	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000217862	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000196747	Chromatin interaction

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27216000-27218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27217600-27218200	Enhancers	K562	blood
4	chr6:27217800-27218400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr6:27217800-27218600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:27218000-27218200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27218000-27218200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27218000-27218200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27218000-27218400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:27218000-27218400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr6:27218000-27218400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr6:27218000-27218400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:27218000-27218400	Enhancers	HMEC	breast
15	chr6:27218000-27218600	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:27218000-27218800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:27218000-27220000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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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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