Variant report

Variant	rs5997948
Chromosome Location	chr22:31689705-31689706
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr22:31689660-31689952	K562	blood:	n/a	chr22:31689759-31689772
2	MEF2A	chr22:31689698-31689992	GM12878	blood:	n/a	chr22:31689858-31689873 chr22:31689859-31689873
3	FOS	chr22:31689661-31689943	MCF10A-Er-Src	breast:	n/a	chr22:31689844-31689855 chr22:31689846-31689854
4	POLR2A	chr22:31689705-31690237	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr22:31689672-31689949	MCF10A-Er-Src	breast:	n/a	chr22:31689844-31689855 chr22:31689846-31689854
6	FOS	chr22:31689621-31690006	MCF10A-Er-Src	breast:	n/a	chr22:31689844-31689855 chr22:31689846-31689854
7	MEF2A	chr22:31689634-31690081	K562	blood:	n/a	chr22:31689858-31689873 chr22:31689859-31689873
8	FOS	chr22:31689700-31689952	HUVEC	blood vessel:	n/a	chr22:31689844-31689855 chr22:31689846-31689854
9	POLR2A	chr22:31689655-31689751	Hela-S3	cervix:	n/a	n/a
10	EP300	chr22:31689555-31689747	GM12878	blood:	n/a	chr22:31689641-31689651
11	POLR2A	chr22:31689555-31689966	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr22:31689524-31689923	MCF10A-Er-Src	breast:	n/a	chr22:31689844-31689855 chr22:31689846-31689854
13	STAT3	chr22:31689634-31689774	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr22:31689699-31689993	K562	blood:	n/a	chr22:31689846-31689854
15	MEF2A	chr22:31689623-31690073	SK-N-SH	brain:	n/a	chr22:31689858-31689873 chr22:31689859-31689873

No.	Distal block	Cell Line	Cell type
1	chr22:31686029..31689751-chr22:31793811..31797004,3	K562	blood:
2	chr22:31685822..31687584-chr22:31689344..31691234,2	K562	blood:
3	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
4	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:

Variant related genes	Relation type
PIK3IP1	TF binding region
ENSG00000100100	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1034587	0.80[AMR][1000 genomes]
rs11089493	0.92[EUR][1000 genomes]
rs11089495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11089496	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123705	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1138706	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11556237	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11703005	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703576	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704523	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16989469	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1985726	0.82[AMR][1000 genomes]
rs2057951	0.93[EUR][1000 genomes]
rs2899161	0.90[EUR][1000 genomes]
rs4293639	0.95[EUR][1000 genomes]
rs55837074	0.81[EUR][1000 genomes]
rs56292834	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57523999	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753523	0.95[EUR][1000 genomes]
rs5753554	0.92[EUR][1000 genomes]
rs5753629	1.00[ASN][1000 genomes]
rs5994386	0.95[EUR][1000 genomes]
rs5994387	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997917	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5997921	0.90[EUR][1000 genomes]
rs5997924	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5997942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997956	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997959	0.91[EUR][1000 genomes]
rs5997965	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60459126	0.85[EUR][1000 genomes]
rs713619	0.93[EUR][1000 genomes]
rs7285027	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285716	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7286926	0.89[EUR][1000 genomes]
rs7287715	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739428	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8143159	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8595	0.80[EUR][1000 genomes]
rs9680708	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31686000-31689800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr22:31686200-31689800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:31686600-31690400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr22:31688400-31693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31688600-31689800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:31688600-31689800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr22:31688600-31689800	Weak transcription	Ovary	ovary
8	chr22:31688600-31689800	Enhancers	HSMM	muscle
9	chr22:31688600-31689800	Enhancers	NHDF-Ad	bronchial
10	chr22:31688600-31690000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr22:31688600-31690000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr22:31688600-31690000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr22:31688600-31690000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:31688600-31690000	Enhancers	Fetal Heart	heart
15	chr22:31688600-31690000	Enhancers	Fetal Intestine Large	intestine
16	chr22:31688600-31690000	Enhancers	Stomach Mucosa	stomach
17	chr22:31688600-31690000	Enhancers	HUVEC	blood vessel
18	chr22:31688600-31690600	Weak transcription	Small Intestine	intestine
19	chr22:31688600-31691200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:31688600-31691400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31688600-31691800	Weak transcription	Left Ventricle	heart
22	chr22:31688800-31689800	Enhancers	NHEK	skin
23	chr22:31688800-31689800	Enhancers	Osteobl	bone
24	chr22:31688800-31690000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr22:31688800-31690000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:31688800-31690000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31688800-31690000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr22:31688800-31690000	Enhancers	Hela-S3	cervix
29	chr22:31688800-31690000	Enhancers	NHLF	lung
30	chr22:31688800-31690200	Enhancers	Primary B cells from peripheral blood	blood
31	chr22:31688800-31690200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:31688800-31690200	Enhancers	Fetal Thymus	thymus
33	chr22:31688800-31690800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:31688800-31691400	Weak transcription	A549	lung
35	chr22:31688800-31691400	Weak transcription	HMEC	breast
36	chr22:31688800-31691600	Weak transcription	Psoas Muscle	Psoas
37	chr22:31688800-31692000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:31688800-31692000	Weak transcription	Colonic Mucosa	Colon
39	chr22:31688800-31692400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:31688800-31692400	Weak transcription	Fetal Lung	lung
41	chr22:31688800-31693000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr22:31689000-31690000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:31689000-31690000	Enhancers	Brain Hippocampus Middle	brain
44	chr22:31689000-31690000	Enhancers	Colon Smooth Muscle	Colon
45	chr22:31689000-31690200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:31689000-31691400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:31689000-31691400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:31689000-31691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:31689000-31691600	Enhancers	GM12878-XiMat	blood
50	chr22:31689000-31691800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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