Variant report

Variant	rs855723
Chromosome Location	chr12:49370547-49370548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:49370218-49370586	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr12:49370176-49370555	MCF-7	breast:	n/a	n/a
3	RAD21	chr12:49369996-49370549	SK-N-SH	brain:	n/a	n/a
4	ZNF384	chr12:49370253-49370613	GM12878	blood:	n/a	n/a
5	CTCF	chr12:49370277-49370555	IMR90	lung:	n/a	n/a
6	RAD21	chr12:49370237-49370586	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr12:49370082-49370555	HCT-116	colon:	n/a	n/a
8	CTCF	chr12:49370324-49370555	A549	lung:	n/a	n/a
9	ZNF384	chr12:49370237-49370588	K562	blood:	n/a	n/a
10	CTCF	chr12:49370248-49370600	GM12878	blood:	n/a	n/a
11	CTCF	chr12:49369934-49370748	A549	lung:	n/a	n/a
12	RAD21	chr12:49370187-49370624	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr12:49370217-49370556	NB4	blood:	n/a	chr12:49370381-49370391
14	SMC3	chr12:49370247-49370553	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49370543..49373352-chr12:49387358..49390310,3	K562	blood:
2	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
3	chr12:49209271..49210859-chr12:49368260..49371075,2	MCF-7	breast:
4	chr12:49370543..49373211-chr12:49387729..49389906,2	K562	blood:
5	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
6	chr12:49318437..49319378-chr12:49369941..49370726,2	MCF-7	breast:
7	chr12:49370152..49372089-chr12:49373719..49376095,2	MCF-7	breast:
8	chr12:49328293..49330504-chr12:49369546..49372334,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
WNT1	TF binding region
ENSG00000134285	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000181929	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11547436	1.00[ASN][1000 genomes]
rs11831294	1.00[ASN][1000 genomes]
rs2228417	1.00[ASN][1000 genomes]

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49366000-49371000	Weak transcription	Pancreas	Pancrea
2	chr12:49367600-49371200	Weak transcription	Spleen	Spleen
3	chr12:49367800-49371800	Weak transcription	Right Atrium	heart
4	chr12:49368600-49371400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:49368800-49371200	Weak transcription	K562	blood
6	chr12:49370400-49371200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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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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