Variant report

Variant	rs10133677
Chromosome Location	chr14:47746980-47746981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10142767	0.95[ASN][1000 genomes]
rs10143747	0.94[ASN][1000 genomes]
rs1028829	0.96[ASN][1000 genomes]
rs10484190	0.86[ASN][1000 genomes]
rs11622358	0.97[ASN][1000 genomes]
rs11627021	0.98[ASN][1000 genomes]
rs17123	0.98[ASN][1000 genomes]
rs17652760	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1952212	0.82[ASN][1000 genomes]
rs2275505	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73238714	0.94[ASN][1000 genomes]
rs73251638	0.94[ASN][1000 genomes]
rs73251641	0.97[ASN][1000 genomes]
rs8005535	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010450	0.98[ASN][1000 genomes]
rs9323129	0.96[ASN][1000 genomes]
rs9805916	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv525101	chr14:47730954-47746980	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv564793	chr14:47732038-47756470	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10133677	FANCM	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47746000-47747200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:47746000-47747600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:47746200-47747200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:47746200-47747200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:47746200-47747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:47746200-47747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:47746400-47747000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:47746400-47747000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:47746400-47747400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:47746800-47747400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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