Variant report

Variant	rs4820031
Chromosome Location	chr22:31278578-31278579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr22:31278552-31278588	Hela-S3	cervix:	n/a	n/a
2	ESR1	chr22:31278255-31278685	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr22:31278176-31278915	ECC-1	luminal epithelium:	n/a	n/a
4	TCF7L2	chr22:31277877-31278663	Hela-S3	cervix:	n/a	chr22:31277897-31277907
5	ZNF384	chr22:31278346-31278731	K562	blood:	n/a	n/a
6	POLR2A	chr22:31277209-31279535	PBDE	blood:	n/a	n/a
7	TEAD4	chr22:31278276-31278875	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr22:31278211-31278861	ECC-1	luminal epithelium:	n/a	chr22:31278644-31278653
9	EP300	chr22:31278173-31278993	ECC-1	luminal epithelium:	n/a	n/a
10	NR3C1	chr22:31278410-31278624	ECC-1	luminal epithelium:	n/a	chr22:31278595-31278602
11	POLR2A	chr22:31277988-31278602	Hela-S3	cervix:	n/a	n/a
12	YY1	chr22:31278356-31278862	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr22:31278166-31278968	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr22:31278113-31279028	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr22:31278322-31278793	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr22:31278207-31278851	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr22:31278266-31278682	ECC-1	luminal epithelium:	n/a	n/a
18	GATA1	chr22:31277278-31279456	PBDE	blood:	n/a	chr22:31279090-31279100
19	TCF12	chr22:31278144-31278906	ECC-1	luminal epithelium:	n/a	n/a
20	FOXM1	chr22:31278258-31278778	ECC-1	luminal epithelium:	n/a	n/a
21	TFAP2C	chr22:31277825-31278735	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31197932..31200632-chr22:31277556..31279814,2	K562	blood:

No data

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12160486	1.00[ASN][1000 genomes]
rs34240867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34369042	1.00[ASN][1000 genomes]
rs35988107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41279971	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4820912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4820917	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4820920	1.00[ASN][1000 genomes]
rs4820931	1.00[ASN][1000 genomes]
rs5994357	1.00[ASN][1000 genomes]
rs5994363	1.00[ASN][1000 genomes]
rs5997799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997818	1.00[ASN][1000 genomes]
rs5997850	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv914974	chr22:31249333-31279536	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31269400-31284200	Weak transcription	NHEK	skin
4	chr22:31269800-31283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:31272200-31280600	Enhancers	Fetal Heart	heart
6	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:31275400-31280200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:31275600-31283400	Weak transcription	Brain Germinal Matrix	brain
10	chr22:31275800-31283600	Weak transcription	HSMM	muscle
11	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
14	chr22:31276400-31283400	Weak transcription	Fetal Brain Female	brain
15	chr22:31276400-31283600	Weak transcription	Brain Substantia Nigra	brain
16	chr22:31276600-31280200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31276800-31278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:31277000-31278800	Enhancers	A549	lung
19	chr22:31277000-31278800	Flanking Active TSS	HepG2	liver
20	chr22:31277200-31278600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31277200-31278600	Enhancers	Liver	Liver
22	chr22:31277400-31279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31277400-31280000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:31277600-31278800	Flanking Active TSS	Hela-S3	cervix
25	chr22:31277600-31279000	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr22:31277600-31279000	Active TSS	K562	blood
27	chr22:31277800-31278600	Flanking Active TSS	Fetal Lung	lung
28	chr22:31277800-31279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
30	chr22:31278000-31280200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr22:31278000-31280400	Weak transcription	Brain Angular Gyrus	brain
32	chr22:31278000-31283400	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:31278200-31278800	Enhancers	Small Intestine	intestine
35	chr22:31278200-31279400	Weak transcription	Left Ventricle	heart
36	chr22:31278200-31279400	Weak transcription	Right Atrium	heart
37	chr22:31278200-31280000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:31278200-31280800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:31278200-31283200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:31278200-31283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:31278200-31284400	Weak transcription	Gastric	stomach
42	chr22:31278200-31285200	Weak transcription	Esophagus	oesophagus
43	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:31278400-31278600	Enhancers	Duodenum Mucosa	Duodenum
46	chr22:31278400-31279400	Weak transcription	Right Ventricle	heart
47	chr22:31278400-31280000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:31278400-31280400	Weak transcription	Spleen	Spleen
49	chr22:31278400-31281800	Enhancers	Placenta	Placenta
50	chr22:31278400-31283400	Weak transcription	Brain Cingulate Gyrus	brain

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