Variant report

Variant	rs2525764
Chromosome Location	chr7:26478596-26478597
allele	A/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	REST	chr7:26478487-26481582	H1-neurons	neurons:	n/a	chr7:26480458-26480467

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26478024..26479720-chr7:26479844..26481619,2	MCF-7	breast:
2	chr7:26471171..26474068-chr7:26476646..26478928,2	K562	blood:

Variant related genes	Relation type
ENSG00000214870	TF binding region
ENSG00000214870	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2525763	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525765	0.84[ASN][1000 genomes]
rs2698725	0.84[ASN][1000 genomes]
rs2698726	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv606461	chr7:26460409-26485860	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2525764	NUPL2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26460600-26484600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:26466400-26479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:26466400-26479200	Weak transcription	Fetal Brain Female	brain
4	chr7:26470600-26480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:26475200-26479800	Weak transcription	K562	blood
6	chr7:26476200-26478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:26476800-26479000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:26477000-26478800	Weak transcription	Fetal Brain Male	brain
9	chr7:26477000-26479600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:26477000-26482600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:26477200-26479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:26477200-26479200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:26477200-26480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:26477600-26481200	Weak transcription	Lung	lung
15	chr7:26477600-26481200	Weak transcription	Pancreas	Pancrea
16	chr7:26477800-26480400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:26478000-26479200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:26478200-26479200	Weak transcription	Fetal Lung	lung
19	chr7:26478200-26479200	Weak transcription	Fetal Stomach	stomach
20	chr7:26478200-26479400	Weak transcription	Fetal Kidney	kidney
21	chr7:26478200-26479800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:26478200-26480800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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