Variant report

Variant	rs28630996
Chromosome Location	chr15:32993860-32993861
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16969344	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16969816	0.94[ASN][1000 genomes]
rs16969862	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28399071	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28590240	0.94[ASN][1000 genomes]
rs7494781	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv568915	chr15:32965357-32994056	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv456787	chr15:32968923-33023951	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv568916	chr15:32968923-33023951	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:32978800-32996400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:32980800-32996200	Weak transcription	HSMMtube	muscle
3	chr15:32985000-32996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:32985000-33002000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:32985600-32997000	Weak transcription	NHEK	skin
6	chr15:32987200-32998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:32991800-32995000	Weak transcription	Fetal Brain Female	brain
8	chr15:32992200-32994000	Enhancers	Liver	Liver
9	chr15:32992400-32994000	Enhancers	Stomach Mucosa	stomach
10	chr15:32993000-32994200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:32993200-32995800	Enhancers	HepG2	liver
12	chr15:32993600-32994000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:32993600-32994000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:32993600-32994000	Enhancers	Gastric	stomach
15	chr15:32993600-32994000	Enhancers	Pancreas	Pancrea
16	chr15:32993600-32994200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:32993600-32994200	Enhancers	NHDF-Ad	bronchial
18	chr15:32993800-32994000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:32993800-32994000	Enhancers	Psoas Muscle	Psoas
20	chr15:32993800-32994000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
21	chr15:32993800-32994200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr15:32993800-32994200	Flanking Active TSS	Osteobl	bone
23	chr15:32993800-32994400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:32993800-32994400	Enhancers	HSMM	muscle
25	chr15:32993800-32994400	Enhancers	NH-A	brain
26	chr15:32993800-32994600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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