Variant report

Variant	rs547338
Chromosome Location	chr15:73637151-73637152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73627682..73629991-chr15:73637117..73639189,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2247424	0.86[ASN][1000 genomes]
rs2554058	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs3784812	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs477377	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs478438	0.81[CHB][hapmap]
rs488784	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs497859	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs512943	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs513042	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs525964	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559632	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs568760	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73626000-73637800	Enhancers	Fetal Heart	heart
2	chr15:73630800-73640600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:73635200-73646600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:73635800-73638000	Enhancers	Right Atrium	heart
5	chr15:73636000-73637200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:73636000-73637800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:73636000-73640600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:73636000-73640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:73636000-73641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:73636000-73645800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:73636000-73646400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:73636200-73637600	Weak transcription	Fetal Brain Male	brain
13	chr15:73636200-73637800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:73636200-73640200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:73636200-73640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:73636200-73644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:73636200-73644200	Weak transcription	Fetal Brain Female	brain
18	chr15:73636200-73646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:73636400-73639000	Enhancers	Right Ventricle	heart
20	chr15:73636400-73644400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:73636600-73639200	Enhancers	Left Ventricle	heart
22	chr15:73636600-73640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:73637000-73637200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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