Variant report

Variant	rs12484858
Chromosome Location	chr22:31899659-31899660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr22:31899203-31899744	MCF-7	breast:	n/a	n/a
2	GATA3	chr22:31899155-31899756	MCF-7	breast:	n/a	n/a
3	NR2F2	chr22:31899149-31899735	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31895644..31897585-chr22:31899488..31902230,2	K562	blood:
2	chr22:31883080..31888273-chr22:31897152..31901136,10	MCF-7	breast:
3	chr22:31892433..31894421-chr22:31898516..31901632,3	K562	blood:
4	chr22:31884404..31886896-chr22:31898271..31902090,3	MCF-7	breast:
5	chr22:31892596..31895248-chr22:31897166..31900535,3	MCF-7	breast:
6	chr22:31895925..31897585-chr22:31899327..31902230,2	K562	blood:
7	chr22:31892881..31894794-chr22:31897314..31900016,2	K562	blood:

No data

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10483159	0.82[ASN][1000 genomes]
rs12169794	0.86[ASN][1000 genomes]
rs12484188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484233	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12484966	0.82[ASN][1000 genomes]
rs12485131	0.83[AMR][1000 genomes]
rs12485142	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12485176	0.86[ASN][1000 genomes]
rs17821132	0.82[ASN][1000 genomes]
rs2295240	0.86[ASN][1000 genomes]
rs2295241	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413055	0.92[AMR][1000 genomes]
rs35047625	0.81[ASN][1000 genomes]
rs35208364	0.82[ASN][1000 genomes]
rs3747155	0.89[ASN][1000 genomes]
rs3788434	0.86[ASN][1000 genomes]
rs3788435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58055951	0.89[ASN][1000 genomes]
rs58915086	0.83[AMR][1000 genomes]
rs59416609	0.89[ASN][1000 genomes]
rs9621263	0.82[ASN][1000 genomes]
rs9621264	0.82[ASN][1000 genomes]
rs9621270	0.82[ASN][1000 genomes]

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	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription 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	8 gene(s)	inside rSNPs	diseases
7	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893000-31905200	Weak transcription	Aorta	Aorta
2	chr22:31893200-31903600	Weak transcription	Left Ventricle	heart
3	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
4	chr22:31893200-31934800	Weak transcription	Ovary	ovary
5	chr22:31893400-31900000	Weak transcription	HSMM	muscle
6	chr22:31893400-31905200	Weak transcription	Fetal Intestine Large	intestine
7	chr22:31893400-31907200	Weak transcription	Fetal Intestine Small	intestine
8	chr22:31893400-31909000	Weak transcription	Liver	Liver
9	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:31893600-31899800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:31893600-31900000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:31893600-31900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:31893600-31900000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:31893600-31900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:31893600-31900000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:31893600-31900000	Weak transcription	NHDF-Ad	bronchial
18	chr22:31893600-31904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:31893600-31904600	Weak transcription	A549	lung
20	chr22:31893600-31904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:31893600-31907000	Weak transcription	Lung	lung
22	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
23	chr22:31893600-31925600	Weak transcription	Gastric	stomach
24	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
27	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
29	chr22:31893800-31900600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:31893800-31904800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:31893800-31907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:31893800-31907400	Weak transcription	Right Ventricle	heart
33	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:31893800-31914600	Weak transcription	HepG2	liver
35	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
37	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
40	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
42	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:31893800-31934800	Weak transcription	HMEC	breast
44	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
45	chr22:31894000-31900200	Weak transcription	NHEK	skin
46	chr22:31894000-31902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:31894000-31903200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr22:31894000-31903200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:31894000-31904600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr22:31894000-31904800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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