Variant report

Variant	rs56394397
Chromosome Location	chr14:97206304-97206305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:97206291-97206457	HepG2	liver:	n/a	n/a
2	MAFK	chr14:97206075-97206420	HepG2	liver:	n/a	chr14:97206202-97206213

Variant related genes	Relation type
ENSG00000258979	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11622280	0.93[EUR][1000 genomes]
rs11624633	0.97[EUR][1000 genomes]
rs17094406	0.87[AFR][1000 genomes]
rs72708749	0.97[EUR][1000 genomes]
rs72708752	0.97[EUR][1000 genomes]
rs72708778	0.97[EUR][1000 genomes]
rs74091030	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97202000-97207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:97203200-97207400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:97203400-97207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:97204000-97207000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:97204600-97206600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:97204600-97207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:97205200-97206400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr14:97205200-97206400	Flanking Active TSS	Fetal Brain Female	brain
9	chr14:97205600-97207200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:97205800-97206400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:97206000-97206400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:97206000-97206400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr14:97206000-97207400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:97206200-97206400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:97206200-97206400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:97206200-97206800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr14:97206200-97207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:97206200-97207400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:97206200-97207400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:97206200-97207400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:97206200-97208800	Enhancers	Fetal Brain Male	brain

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