Variant report

Variant	rs17288483
Chromosome Location	chr3:46700287-46700288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46699829..46702382-chr3:46705244..46707445,2	K562	blood:
2	chr3:46698830..46701329-chr3:46704770..46706744,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7371865	1.00[AFR][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	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46688400-46700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:46693400-46701800	Weak transcription	Right Atrium	heart
3	chr3:46698000-46707600	Weak transcription	Gastric	stomach
4	chr3:46699000-46700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:46699000-46700400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:46699000-46700400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:46699000-46700600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:46699000-46700600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:46699000-46700600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:46699000-46700600	Weak transcription	HMEC	breast
11	chr3:46699000-46700800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:46699000-46701000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:46699000-46701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:46699000-46701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:46699000-46702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:46699200-46700400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:46699200-46700600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:46699400-46700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:46699400-46700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:46699400-46701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:46699400-46701600	Weak transcription	NHDF-Ad	bronchial
22	chr3:46699800-46701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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