Variant report

Variant	rs28412926
Chromosome Location	chr22:31471616-31471617
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	chr22:31363626..31365762-chr22:31470443..31472227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11913100	1.00[ASN][1000 genomes]
rs16989281	1.00[ASN][1000 genomes]
rs28461534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997855	0.83[ASN][1000 genomes]
rs61529391	1.00[ASN][1000 genomes]
rs62236113	1.00[ASN][1000 genomes]
rs62236114	1.00[ASN][1000 genomes]
rs62236115	1.00[ASN][1000 genomes]
rs62236119	1.00[ASN][1000 genomes]
rs62236120	1.00[ASN][1000 genomes]
rs62236122	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236124	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236125	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236126	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7284985	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7285584	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:31466200-31471800	Weak transcription	Osteobl	bone
3	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:31466400-31471800	Weak transcription	NHEK	skin
6	chr22:31467800-31471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31468000-31471800	Weak transcription	Right Atrium	heart
8	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
11	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
12	chr22:31470600-31471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:31470800-31472600	Enhancers	Fetal Muscle Leg	muscle
14	chr22:31471200-31472400	Enhancers	Placenta	Placenta
15	chr22:31471200-31473000	Enhancers	Fetal Stomach	stomach
16	chr22:31471200-31473000	Enhancers	Stomach Smooth Muscle	stomach
17	chr22:31471400-31472400	Enhancers	Fetal Muscle Trunk	muscle
18	chr22:31471400-31472600	Enhancers	Adipose Nuclei	Adipose
19	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
20	chr22:31471600-31471800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:31471600-31472000	Enhancers	HSMMtube	muscle
22	chr22:31471600-31472400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:31471600-31472600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31471600-31472600	Enhancers	Fetal Intestine Large	intestine
25	chr22:31471600-31472600	Enhancers	NHDF-Ad	bronchial

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