Variant report

Variant	rs4820882
Chromosome Location	chr22:31005293-31005294
allele	A/G
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	REST	chr22:31005275-31005589	K562	blood:	n/a	n/a
2	EBF1	chr22:31005137-31005507	GM12878	blood:	n/a	n/a
3	RELA	chr22:31004790-31005927	GM19099	blood:	n/a	n/a
4	HEY1	chr22:31005261-31005543	K562	blood:	n/a	n/a
5	CCNT2	chr22:31005216-31005650	K562	blood:	n/a	n/a
6	TBL1XR1	chr22:31005080-31005654	K562	blood:	n/a	n/a
7	JUN	chr22:31005114-31005671	K562	blood:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
8	CEBPB	chr22:31005212-31005819	GM12878	blood:	n/a	n/a
9	MYC	chr22:31005189-31005766	NB4	blood:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
10	MXI1	chr22:31005291-31005755	GM12878	blood:	n/a	n/a
11	RCOR1	chr22:31005276-31005679	GM12878	blood:	n/a	n/a
12	KAP1	chr22:31005193-31005779	U2OS	brain:	n/a	chr22:31005485-31005494
13	MAFF	chr22:31005292-31005681	K562	blood:	n/a	chr22:31005475-31005493 chr22:31005481-31005495
14	MEF2A	chr22:31005023-31005654	GM12878	blood:	n/a	chr22:31005484-31005492
15	ATF2	chr22:31005255-31005749	GM12878	blood:	n/a	n/a
16	FOXM1	chr22:31005258-31005812	GM12878	blood:	n/a	n/a
17	IRF1	chr22:31005205-31005780	K562	blood:	n/a	chr22:31005555-31005569 chr22:31005462-31005475 chr22:31005462-31005475 chr22:31005462-31005476 chr22:31005547-31005567 chr22:31005462-31005475 chr22:31005551-31005565 chr22:31005463-31005473 chr22:31005463-31005477
18	MAX	chr22:31005197-31005933	NB4	blood:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
19	MTA3	chr22:31004785-31006048	GM12878	blood:	n/a	n/a
20	BATF	chr22:31005257-31005717	GM12878	blood:	n/a	chr22:31005480-31005491 chr22:31005481-31005491
21	EBF1	chr22:31005259-31006129	GM12878	blood:	n/a	chr22:31005924-31005934 chr22:31005923-31005936 chr22:31005925-31005934
22	FOXM1	chr22:31005208-31005874	GM12878	blood:	n/a	n/a
23	STAT5A	chr22:31005289-31005710	GM12878	blood:	n/a	chr22:31005462-31005473
24	FOSL2	chr22:31005269-31005600	HepG2	liver:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
25	RUNX3	chr22:31005170-31005859	GM12878	blood:	n/a	n/a
26	TAF1	chr22:31005230-31005593	K562	blood:	n/a	n/a
27	BCLAF1	chr22:31005263-31005838	GM12878	blood:	n/a	chr22:31005464-31005473 chr22:31005499-31005508
28	RUNX3	chr22:31005155-31005845	GM12878	blood:	n/a	n/a
29	RCOR1	chr22:31005206-31005659	K562	blood:	n/a	n/a
30	CHD1	chr22:31005196-31005453	GM12878	blood:	n/a	n/a
31	STAT5A	chr22:31005095-31005763	GM12878	blood:	n/a	chr22:31005462-31005473
32	JUND	chr22:31005233-31005699	K562	blood:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
33	ELF1	chr22:31005270-31005579	K562	blood:	n/a	n/a
34	FOSL2	chr22:31005220-31005753	A549	lung:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
35	CBX3	chr22:31005275-31005863	K562	blood:	n/a	n/a
36	RELA	chr22:31005197-31005767	GM18951	blood:	n/a	n/a
37	NFIC	chr22:31005220-31005742	GM12878	blood:	n/a	n/a
38	FOS	chr22:31005215-31005753	HUVEC	blood vessel:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005493 chr22:31005482-31005494 chr22:31005485-31005496
39	BHLHE40	chr22:31005290-31005929	K562	blood:	n/a	n/a
40	MAX	chr22:31005247-31006234	K562	blood:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
41	EBF1	chr22:31005177-31005598	GM12878	blood:	n/a	n/a
42	MYC	chr22:31005049-31005900	K562	blood:	n/a	chr22:31005572-31005582 chr22:31005752-31005762 chr22:31005484-31005493
43	JUND	chr22:31005290-31005665	Hela-S3	cervix:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
44	JUN	chr22:31005207-31006264	K562	blood:	n/a	chr22:31005483-31005493 chr22:31005484-31005492 chr22:31005482-31005494 chr22:31005485-31005496
45	NFIC	chr22:31005207-31005774	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:31005199-31005772	K562	blood:	n/a	n/a
47	POLR2A	chr22:31005180-31005957	K562	blood:	n/a	n/a
48	MTA3	chr22:31005120-31005935	GM12878	blood:	n/a	n/a
49	BCLAF1	chr22:31005170-31005798	GM12878	blood:	n/a	chr22:31005464-31005473 chr22:31005499-31005508
50	IKZF1	chr22:31005117-31005824	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31001781..31003310-chr22:31003828..31005439,2	K562	blood:
2	chr22:30998699..31001313-chr22:31003661..31005659,2	K562	blood:
3	chr22:30986017..30988291-chr22:31003430..31005717,3	K562	blood:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000185339	Chromatin interaction
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11703570	0.94[ASN][1000 genomes]
rs13055009	0.86[ASN][1000 genomes]
rs13056378	0.88[ASN][1000 genomes]
rs2301955	0.85[ASN][1000 genomes]
rs2301956	0.88[EUR][1000 genomes]
rs2301957	0.85[ASN][1000 genomes]
rs4820888	0.89[ASN][1000 genomes]
rs4820890	0.86[ASN][1000 genomes]
rs5749131	0.82[AMR][1000 genomes]
rs5749132	0.95[ASN][1000 genomes]
rs5749134	0.94[ASN][1000 genomes]
rs5749135	0.94[ASN][1000 genomes]
rs5749137	0.86[ASN][1000 genomes]
rs5753229	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753230	0.82[AMR][1000 genomes]
rs5753234	0.94[ASN][1000 genomes]
rs5753246	0.87[ASN][1000 genomes]
rs5753247	0.89[ASN][1000 genomes]
rs5997703	0.94[ASN][1000 genomes]
rs5997704	0.80[EUR][1000 genomes]
rs7286680	0.85[ASN][1000 genomes]
rs740233	0.94[ASN][1000 genomes]
rs740235	0.94[ASN][1000 genomes]
rs9609017	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621047	0.95[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr22:31002000-31007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31003000-31005600	Enhancers	Primary B cells from cord blood	blood
4	chr22:31003200-31005600	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:31003200-31006000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr22:31003200-31007000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
8	chr22:31003400-31005400	Enhancers	Gastric	stomach
9	chr22:31003400-31005800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr22:31003400-31006000	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr22:31003400-31006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:31003400-31006600	Enhancers	Fetal Thymus	thymus
13	chr22:31003400-31007000	Enhancers	Spleen	Spleen
14	chr22:31003600-31005400	Enhancers	Small Intestine	intestine
15	chr22:31003600-31005600	Enhancers	NHLF	lung
16	chr22:31003600-31006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31003600-31006000	Enhancers	Colonic Mucosa	Colon
18	chr22:31003600-31006000	Enhancers	Esophagus	oesophagus
19	chr22:31003600-31006000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:31003600-31006000	Enhancers	Stomach Mucosa	stomach
21	chr22:31003600-31006000	Enhancers	HSMM	muscle
22	chr22:31003600-31006200	Enhancers	Fetal Muscle Trunk	muscle
23	chr22:31003600-31006400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:31003600-31006400	Enhancers	NHDF-Ad	bronchial
25	chr22:31003600-31006600	Enhancers	Fetal Muscle Leg	muscle
26	chr22:31003800-31005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr22:31003800-31005600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:31003800-31006000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:31003800-31006000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:31003800-31006000	Bivalent Enhancer	HepG2	liver
31	chr22:31003800-31006200	Enhancers	Fetal Intestine Large	intestine
32	chr22:31003800-31006400	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:31003800-31007600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:31003800-31009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
36	chr22:31004000-31005400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr22:31004000-31005600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:31004000-31005800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:31004000-31005800	Enhancers	Fetal Intestine Small	intestine
40	chr22:31004000-31006400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:31004200-31005400	Weak transcription	Right Ventricle	heart
42	chr22:31004200-31005600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:31004200-31005600	Active TSS	Rectal Smooth Muscle	rectum
44	chr22:31004200-31006000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:31004200-31006200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:31004200-31006200	Weak transcription	Fetal Stomach	stomach
47	chr22:31004200-31006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr22:31004200-31006600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:31004200-31006600	Enhancers	Left Ventricle	heart
50	chr22:31004200-31013400	Weak transcription	Pancreas	Pancrea

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