Variant report

Variant	rs717824
Chromosome Location	chr7:14032498-14032499
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	POLR2A	chr7:14025183-14033189	PFSK-1	brain:	n/a	n/a
2	CTCF	chr7:14032402-14032608	K562	blood:	n/a	n/a
3	POLR2A	chr7:14024721-14033114	PFSK-1	brain:	n/a	n/a
4	RFX5	chr7:14027392-14032646	SK-N-SH	brain:	n/a	chr7:14030977-14030992

No.	Distal block	Cell Line	Cell type
1	chr7:12726564..12728069-chr7:14030537..14032719,2	K562	blood:
2	chr7:13961833..13964592-chr7:14031302..14033936,2	K562	blood:
3	chr7:12766010..12767931-chr7:14032375..14035342,2	K562	blood:
4	chr7:12726569..12729103-chr7:14030562..14032719,2	K562	blood:
5	chr7:13882109..13884330-chr7:14031307..14033942,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region
ENSG00000122644	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12538431	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14030200-14032800	Active TSS	Fetal Brain Male	brain
2	chr7:14031600-14032600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:14031600-14032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:14031800-14032600	Flanking Active TSS	Fetal Lung	lung
5	chr7:14031800-14032800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:14032000-14033200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:14032000-14033200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:14032200-14032600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:14032200-14033000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:14032200-14033000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:14032200-14033200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:14032200-14033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:14032200-14035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:14032200-14038400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:14032400-14032600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:14032400-14032600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:14032400-14032600	Enhancers	Osteobl	bone
18	chr7:14032400-14032800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:14032400-14032800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:14032400-14032800	Active TSS	K562	blood
21	chr7:14032400-14033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:14032400-14033000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:14032400-14033000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:14032400-14033000	Enhancers	Liver	Liver
25	chr7:14032400-14033200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:14032400-14037800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:14032400-14038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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