Variant report

Variant	rs417344
Chromosome Location	chr15:58717919-58717920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58714110..58717947-chr15:58718129..58721624,4	K562	blood:
2	chr15:58713103..58715507-chr15:58716251..58718186,2	MCF-7	breast:
3	chr15:58685871..58690225-chr15:58716411..58720519,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12912415	1.00[CEU][hapmap];0.82[GIH][hapmap];0.84[AMR][1000 genomes]
rs35547826	0.81[AMR][1000 genomes]
rs35684611	0.84[AMR][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv904267	chr15:58699010-58769583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs417344	PIGB	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58703400-58718600	Weak transcription	Primary T cells from cord blood	blood
2	chr15:58704600-58728800	Weak transcription	Thymus	Thymus
3	chr15:58711800-58722000	Enhancers	Liver	Liver
4	chr15:58712800-58718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:58715000-58718000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:58716200-58718200	Enhancers	K562	blood
7	chr15:58716600-58721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:58716600-58725800	Weak transcription	Right Atrium	heart
9	chr15:58716600-58726600	Weak transcription	Esophagus	oesophagus
10	chr15:58716800-58718000	Enhancers	HepG2	liver
11	chr15:58716800-58718000	Enhancers	NHDF-Ad	bronchial
12	chr15:58716800-58718200	Enhancers	Fetal Intestine Large	intestine
13	chr15:58716800-58722400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:58717600-58718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:58717600-58718200	Enhancers	Fetal Intestine Small	intestine
16	chr15:58717600-58718400	Enhancers	Stomach Mucosa	stomach
17	chr15:58717600-58718600	Enhancers	Fetal Lung	lung
18	chr15:58717600-58718800	Enhancers	A549	lung
19	chr15:58717600-58719600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:58717800-58723600	Weak transcription	Pancreas	Pancrea
21	chr15:58717800-58724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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