Variant report

Variant	rs28461534
Chromosome Location	chr22:31472170-31472171
allele	G/T
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11913100	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989281	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286214	0.88[EUR][1000 genomes]
rs28412926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095120	0.82[EUR][1000 genomes]
rs5997855	0.83[ASN][1000 genomes]
rs61529391	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236113	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236114	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236115	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236119	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236120	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236122	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236124	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236125	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236126	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7284985	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7285584	0.94[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:39 , 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	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
5	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
6	chr22:31470800-31472600	Enhancers	Fetal Muscle Leg	muscle
7	chr22:31471200-31472400	Enhancers	Placenta	Placenta
8	chr22:31471200-31473000	Enhancers	Fetal Stomach	stomach
9	chr22:31471200-31473000	Enhancers	Stomach Smooth Muscle	stomach
10	chr22:31471400-31472400	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:31471400-31472600	Enhancers	Adipose Nuclei	Adipose
12	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
13	chr22:31471600-31472400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:31471600-31472600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:31471600-31472600	Enhancers	Fetal Intestine Large	intestine
16	chr22:31471600-31472600	Enhancers	NHDF-Ad	bronchial
17	chr22:31471800-31472200	Enhancers	Osteobl	bone
18	chr22:31471800-31472400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:31471800-31472400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr22:31471800-31472400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:31471800-31472400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:31471800-31472400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31471800-31472400	Enhancers	Ovary	ovary
24	chr22:31471800-31472400	Enhancers	Psoas Muscle	Psoas
25	chr22:31471800-31472400	Enhancers	Stomach Mucosa	stomach
26	chr22:31471800-31472400	Enhancers	HSMM	muscle
27	chr22:31471800-31472400	Enhancers	NHEK	skin
28	chr22:31471800-31472600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:31471800-31472600	Enhancers	Fetal Intestine Small	intestine
30	chr22:31471800-31472600	Enhancers	Right Atrium	heart
31	chr22:31471800-31472600	Enhancers	NHLF	lung
32	chr22:31472000-31472200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr22:31472000-31472200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:31472000-31472200	Enhancers	Lung	lung
35	chr22:31472000-31472400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:31472000-31472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:31472000-31472400	Enhancers	Esophagus	oesophagus
38	chr22:31472000-31472600	Enhancers	Colonic Mucosa	Colon
39	chr22:31472000-31476400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links