Variant report

Variant	rs17647512
Chromosome Location	chr17:14941932-14941933
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	chr17:14940033..14943746-chr17:14944074..14946842,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28626181	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62061411	0.88[ASN][1000 genomes]
rs8079915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080888	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1059356	chr17:14539984-14989685	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1055358	chr17:14612995-14958513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1064686	chr17:14897967-15046005	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:14937200-14942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:14937200-14942000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:14937600-14942400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:14937600-14945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:14937600-14945600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:14940200-14942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:14940200-14952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:14940600-14942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:14941400-14943000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:14941400-14943200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:14941600-14942200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr17:14941600-14942200	Enhancers	Esophagus	oesophagus
13	chr17:14941600-14942200	Enhancers	Stomach Mucosa	stomach
14	chr17:14941600-14942800	Enhancers	NHDF-Ad	bronchial
15	chr17:14941600-14944000	Enhancers	HMEC	breast
16	chr17:14941800-14942000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr17:14941800-14942200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:14941800-14942200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:14941800-14942200	Flanking Active TSS	NHEK	skin
20	chr17:14941800-14942400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:14941800-14942600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:14941800-14942600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr17:14941800-14943000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr17:14941800-14943000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:14941800-14943200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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