Variant report

Variant	rs13355217
Chromosome Location	chr5:166724173-166724174
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	E2F4	chr5:166724160-166724344	MCF10A-Er-Src	breast:	n/a	n/a
2	RFX5	chr5:166723792-166724238	Hela-S3	cervix:	n/a	chr5:166724176-166724189 chr5:166724141-166724149

Variant related genes	Relation type
ENSG00000254365	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10043619	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10462891	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10475839	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11739327	1.00[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4075224	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4349736	1.00[CEU][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56857681	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58150693	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59094139	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61241624	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6865179	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7341056	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7730469	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7731005	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][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	nsv869374	chr5:166488702-166817411	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032183	chr5:166612188-166732287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv883100	chr5:166718807-166808602	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	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
rs13355217	LOC257358	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166720800-166724600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:166720800-166724600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:166720800-166724800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:166721000-166724400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:166721000-166724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:166721000-166724600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:166721400-166724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:166721600-166724600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:166722400-166724200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:166722400-166724600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:166722600-166724400	Enhancers	NHLF	lung
12	chr5:166722600-166724600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:166722800-166724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:166722800-166724600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:166722800-166729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:166723000-166724400	Enhancers	NHDF-Ad	bronchial
17	chr5:166723200-166724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:166723200-166724400	Enhancers	Small Intestine	intestine
19	chr5:166723400-166730800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:166723600-166724400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:166723600-166724600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:166723600-166724600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:166723800-166724600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:166723800-166724600	Enhancers	Hela-S3	cervix
25	chr5:166724000-166724200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:166724000-166729000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:166724000-166729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:166724000-166729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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