Variant report

Variant	rs497365
Chromosome Location	chr22:27608295-27608296
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	chr22:27602742..27604550-chr22:27607695..27610449,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1401522	0.82[EUR][1000 genomes]
rs491735	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs492416	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs494604	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs497368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499712	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs499733	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500281	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs555860	0.91[ASN][1000 genomes]
rs561417	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849449	0.91[CEU][hapmap];0.94[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs864754	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9613395	0.85[CEU][hapmap]
rs9613399	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27593600-27608800	Weak transcription	Right Atrium	heart
2	chr22:27599600-27608600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:27603000-27609600	Weak transcription	Aorta	Aorta
4	chr22:27604200-27608800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:27604600-27608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:27604600-27608800	Weak transcription	Esophagus	oesophagus
7	chr22:27605400-27610000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr22:27606400-27608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:27606400-27610200	Enhancers	Fetal Intestine Small	intestine
10	chr22:27606600-27608400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:27606600-27610000	Weak transcription	Brain Germinal Matrix	brain
12	chr22:27606800-27608600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:27606800-27609000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27606800-27620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:27607000-27608400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:27607000-27611400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:27607200-27609600	Enhancers	Colon Smooth Muscle	Colon
18	chr22:27607200-27610400	Enhancers	Fetal Intestine Large	intestine
19	chr22:27607400-27608400	Enhancers	A549	lung
20	chr22:27607600-27610200	Enhancers	Rectal Smooth Muscle	rectum
21	chr22:27607600-27611400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:27607800-27608400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:27607800-27609400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:27608000-27609200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:27608000-27610000	Enhancers	Placenta	Placenta
26	chr22:27608000-27611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:27608000-27611600	Enhancers	Osteobl	bone
28	chr22:27608000-27611800	Enhancers	Adipose Nuclei	Adipose
29	chr22:27608200-27608400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:27608200-27608400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr22:27608200-27608400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr22:27608200-27608400	Flanking Active TSS	NHDF-Ad	bronchial
33	chr22:27608200-27608600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:27608200-27608600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr22:27608200-27608600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr22:27608200-27608800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr22:27608200-27609200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:27608200-27609200	Weak transcription	Fetal Lung	lung
39	chr22:27608200-27609200	Enhancers	Pancreas	Pancrea
40	chr22:27608200-27609200	Enhancers	Small Intestine	intestine
41	chr22:27608200-27609200	Enhancers	HSMMtube	muscle
42	chr22:27608200-27609200	Flanking Active TSS	HUVEC	blood vessel
43	chr22:27608200-27609200	Enhancers	NHEK	skin
44	chr22:27608200-27609400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:27608200-27609400	Enhancers	NHLF	lung
46	chr22:27608200-27609600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:27608200-27609600	Enhancers	HSMM	muscle
48	chr22:27608200-27610000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr22:27608200-27610400	Enhancers	NH-A	brain
50	chr22:27608200-27611000	Enhancers	Fetal Muscle Leg	muscle

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