Variant report

Variant	rs16983971
Chromosome Location	chr22:27616325-27616326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27614255..27616554-chr22:27616988..27619608,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16983960	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3888463	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1064910	chr22:27609597-27648408	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16983971	YPEL1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27606800-27620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27613400-27617000	Enhancers	Adipose Nuclei	Adipose
3	chr22:27614600-27617000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr22:27615200-27619200	Weak transcription	Ovary	ovary
5	chr22:27615600-27617000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:27615600-27617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:27615800-27616400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:27615800-27616600	Enhancers	Stomach Smooth Muscle	stomach
9	chr22:27615800-27616800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:27615800-27616800	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:27615800-27616800	Enhancers	NHEK	skin
12	chr22:27615800-27617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:27615800-27617000	Enhancers	HSMM	muscle
14	chr22:27615800-27617000	Enhancers	Osteobl	bone
15	chr22:27615800-27617200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:27615800-27617200	Enhancers	NH-A	brain
17	chr22:27616000-27616400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:27616000-27616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:27616000-27616400	Enhancers	HMEC	breast
20	chr22:27616000-27616600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:27616000-27616600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:27616000-27616800	Enhancers	Colon Smooth Muscle	Colon
23	chr22:27616000-27616800	Enhancers	Fetal Intestine Small	intestine
24	chr22:27616000-27616800	Enhancers	NHLF	lung
25	chr22:27616000-27617000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:27616000-27617000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:27616000-27617000	Enhancers	Fetal Intestine Large	intestine
28	chr22:27616000-27617000	Enhancers	NHDF-Ad	bronchial
29	chr22:27616200-27616800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr22:27616200-27617000	Enhancers	A549	lung

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