Variant report

Variant	rs532088
Chromosome Location	chr22:27616149-27616150
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	chr22:27614255..27616554-chr22:27616988..27619608,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1401527	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs471216	0.82[EUR][1000 genomes]
rs492416	0.93[CHB][hapmap]
rs499733	0.88[CHB][hapmap]
rs559631	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs715601	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs849449	0.88[CHB][hapmap]

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	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
7	nsv526167	chr22:27613130-27616264	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 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	chr22:27615200-27616200	Weak transcription	A549	lung
5	chr22:27615200-27619200	Weak transcription	Ovary	ovary
6	chr22:27615600-27617000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:27615600-27617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:27615800-27616400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:27615800-27616600	Enhancers	Stomach Smooth Muscle	stomach
10	chr22:27615800-27616800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:27615800-27616800	Enhancers	Rectal Smooth Muscle	rectum
12	chr22:27615800-27616800	Enhancers	NHEK	skin
13	chr22:27615800-27617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:27615800-27617000	Enhancers	HSMM	muscle
15	chr22:27615800-27617000	Enhancers	Osteobl	bone
16	chr22:27615800-27617200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:27615800-27617200	Enhancers	NH-A	brain
18	chr22:27616000-27616200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:27616000-27616200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:27616000-27616400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:27616000-27616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:27616000-27616400	Enhancers	HMEC	breast
23	chr22:27616000-27616600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:27616000-27616600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:27616000-27616800	Enhancers	Colon Smooth Muscle	Colon
26	chr22:27616000-27616800	Enhancers	Fetal Intestine Small	intestine
27	chr22:27616000-27616800	Enhancers	NHLF	lung
28	chr22:27616000-27617000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:27616000-27617000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:27616000-27617000	Enhancers	Fetal Intestine Large	intestine
31	chr22:27616000-27617000	Enhancers	NHDF-Ad	bronchial

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