Variant report

Variant	rs6944823
Chromosome Location	chr7:12723222-12723223
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:3)
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	CTCF	chr7:12723112-12723735	HCT-116	colon:	n/a	n/a
2	CTCF	chr7:12723198-12723673	A549	lung:	n/a	n/a
3	RAD21	chr7:12723190-12723670	MCF-7	breast:	n/a	n/a
4	RAD21	chr7:12723194-12723724	ECC-1	luminal epithelium:	n/a	n/a
5	RAD21	chr7:12723198-12723879	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr7:12723156-12723792	A549	lung:	n/a	n/a
7	RAD21	chr7:12723111-12723773	HCT-116	colon:	n/a	n/a
8	CTCF	chr7:12723101-12724105	A549	lung:	n/a	n/a
9	RAD21	chr7:12723127-12723801	A549	lung:	n/a	n/a
10	STAT3	chr7:12723201-12723401	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr7:12723209-12723620	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr7:12723118-12723830	MCF-7	breast:	n/a	n/a
13	RAD21	chr7:12723153-12723747	HCT-116	colon:	n/a	n/a
14	RAD21	chr7:12723168-12723668	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr7:12723214-12723714	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr7:12723211-12723699	H1-hESC	embryonic stem cell:	n/a	n/a
17	ARID3A	chr7:12723212-12723699	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
2	chr7:12722443..12725093-chr7:12726183..12729651,3	K562	blood:
3	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10279548	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279649	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10280332	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12540556	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35407540	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66871471	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67302850	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053442	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053448	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053455	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053467	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053502	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12718200-12723800	Weak transcription	Placenta	Placenta
2	chr7:12721000-12725200	Weak transcription	K562	blood
3	chr7:12721600-12726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:12722000-12723400	Weak transcription	HepG2	liver
5	chr7:12722200-12726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:12722400-12725000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:12723000-12723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:12723200-12723400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:12723200-12724000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:12723200-12724800	Enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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