Variant report

Variant	rs12972718
Chromosome Location	chr19:35985772-35985773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35985678-35987248	A549	lung:	n/a	n/a
2	CTCF	chr19:35985720-35985870	WI-38	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35977197..35979552-chr19:35984108..35986237,2	K562	blood:
2	chr19:35985384..35987874-chr19:36000035..36002510,2	MCF-7	breast:
3	chr19:35760212..35761043-chr19:35985491..35986483,3	K562	blood:
4	chr19:35980592..35983190-chr19:35983600..35986426,4	K562	blood:
5	chr19:35985581..35988105-chr19:35990432..35992271,2	MCF-7	breast:
6	chr19:35985467..35988273-chr19:35990400..35992597,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
KRTDAP	TF binding region
ENSG00000188508	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000105698	Chromatin interaction

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

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

rs_ID	r²[population]
rs11666387	0.90[ASN][1000 genomes]
rs11671004	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293697	0.81[AMR][1000 genomes];0.88[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35978600-35986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:35979600-35986200	Weak transcription	Right Atrium	heart
3	chr19:35981200-35987000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:35982200-35986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:35983200-35986200	Weak transcription	Gastric	stomach
6	chr19:35983800-35988000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:35984800-35987200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35985000-35986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:35985200-35986800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:35985400-35986000	Enhancers	NHEK	skin
11	chr19:35985400-35986200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:35985400-35986200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:35985400-35986800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:35985600-35986000	Weak transcription	Esophagus	oesophagus
15	chr19:35985600-35986000	Enhancers	HepG2	liver

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

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