Variant report

Variant	rs12538431
Chromosome Location	chr7:14033156-14033157
allele	C/G
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	POLR2A	chr7:14025183-14033189	PFSK-1	brain:	n/a	n/a
2	EP300	chr7:14032757-14033166	K562	blood:	n/a	chr7:14032946-14032960
3	RCOR1	chr7:14032824-14033188	K562	blood:	n/a	n/a
4	EP300	chr7:14032813-14033170	GM12878	blood:	n/a	chr7:14032946-14032960
5	JUND	chr7:14032890-14033181	K562	blood:	n/a	chr7:14032918-14032927
6	ARID3A	chr7:14032601-14033233	K562	blood:	n/a	chr7:14032740-14032756
7	ZC3H11A	chr7:14032983-14033235	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:14006642..14008318-chr7:14033077..14034662,2	K562	blood:
2	chr7:13961833..13964592-chr7:14031302..14033936,2	K562	blood:
3	chr7:12766010..12767931-chr7:14032375..14035342,2	K562	blood:
4	chr7:13882109..13884330-chr7:14031307..14033942,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10270149	1.00[JPT][hapmap]
rs17517039	0.81[JPT][hapmap]
rs6975999	1.00[JPT][hapmap]
rs717824	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7803279	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14032000-14033200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:14032000-14033200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:14032200-14033200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:14032200-14033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:14032200-14035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:14032200-14038400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:14032400-14033200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:14032400-14037800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:14032400-14038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:14032600-14033200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:14032600-14033200	Enhancers	Fetal Lung	lung
12	chr7:14032800-14033200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:14032800-14033200	Flanking Active TSS	K562	blood
14	chr7:14032800-14038200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:14033000-14033200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:14033000-14033200	Enhancers	Right Atrium	heart
17	chr7:14033000-14033200	Enhancers	NHDF-Ad	bronchial
18	chr7:14033000-14038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:14033000-14038200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:14033000-14038400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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