Variant report

Variant	rs13224178
Chromosome Location	chr7:12723715-12723716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	RAD21	chr7:12723269-12723769	IMR90	lung:	n/a	n/a
3	RAD21	chr7:12723194-12723724	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr7:12723198-12723879	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr7:12723156-12723792	A549	lung:	n/a	n/a
6	RAD21	chr7:12723111-12723773	HCT-116	colon:	n/a	n/a
7	SMC3	chr7:12723257-12723749	Hela-S3	cervix:	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	CTCF	chr7:12723580-12723730	GM12873	blood:	n/a	n/a
11	RAD21	chr7:12723118-12723830	MCF-7	breast:	n/a	n/a
12	RAD21	chr7:12723153-12723747	HCT-116	colon:	n/a	n/a
13	CTCF	chr7:12723580-12723730	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
2	chr7:12722443..12725093-chr7:12726183..12729651,3	K562	blood:
3	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARL4A	TF binding region
ENSG00000271253	TF binding region
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12699414	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13221298	0.94[AMR][1000 genomes]
rs13221458	0.94[AMR][1000 genomes]
rs13222937	0.94[AMR][1000 genomes]
rs13224841	0.88[AMR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13244046	0.94[AMR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes]
rs17616514	1.00[AFR][1000 genomes]
rs34250068	0.94[AMR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs34811312	0.94[AMR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35091099	0.94[AMR][1000 genomes]
rs35268481	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55831963	0.94[AMR][1000 genomes]
rs56031342	0.94[AMR][1000 genomes]
rs56178138	0.94[AMR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes]
rs66620565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66931243	0.94[AMR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71536892	0.94[AMR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73048799	0.94[AMR][1000 genomes]
rs73053419	0.94[AMR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73055421	0.83[AMR][1000 genomes]
rs73055427	1.00[AFR][1000 genomes]
rs73055444	1.00[AFR][1000 genomes]
rs73055447	1.00[AFR][1000 genomes]
rs73055475	1.00[AFR][1000 genomes]
rs73055491	1.00[AFR][1000 genomes]
rs892714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][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:18 , 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	chr7:12722200-12726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:12722400-12725000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:12723000-12723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12723200-12724000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:12723200-12724800	Enhancers	A549	lung
9	chr7:12723400-12723800	Enhancers	HepG2	liver
10	chr7:12723400-12724400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:12723600-12723800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:12723600-12723800	Enhancers	Osteobl	bone
13	chr7:12723600-12724000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:12723600-12724000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:12723600-12724000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:12723600-12724200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:12723600-12724400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:12723600-12725200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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