Variant report

Variant	rs11913168
Chromosome Location	chr22:30606564-30606565
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	STAT3	chr22:30606302-30606732	MCF10A-Er-Src	breast:	n/a	n/a
2	ZKSCAN1	chr22:30606350-30606902	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr22:30606357-30606694	PANC-1	pancreas:	n/a	n/a
4	EP300	chr22:30606185-30606911	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:30606197-30606760	ECC-1	luminal epithelium:	n/a	n/a
6	SP1	chr22:30606338-30606802	HepG2	liver:	n/a	n/a
7	JUND	chr22:30606391-30606810	HepG2	liver:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
8	POLR2A	chr22:30606104-30607771	HCT-116	colon:	n/a	n/a
9	GATA3	chr22:30606143-30606719	MCF-7	breast:	n/a	chr22:30606705-30606714
10	FOXM1	chr22:30606093-30607114	ECC-1	luminal epithelium:	n/a	n/a
11	SMC3	chr22:30606309-30606742	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr22:30606310-30606775	Hela-S3	cervix:	n/a	n/a
13	MAX	chr22:30606093-30607066	A549	lung:	n/a	chr22:30606673-30606682
14	FOS	chr22:30606323-30606695	MCF10A-Er-Src	breast:	n/a	chr22:30606502-30606514
15	TBP	chr22:30606315-30606755	HepG2	liver:	n/a	chr22:30606524-30606535
16	TFAP2A	chr22:30606186-30606665	Hela-S3	cervix:	n/a	chr22:30606429-30606444
17	FOSL1	chr22:30605938-30607247	HCT-116	colon:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
18	MAX	chr22:30606154-30606723	ECC-1	luminal epithelium:	n/a	chr22:30606673-30606682
19	TCF12	chr22:30606072-30606988	ECC-1	luminal epithelium:	n/a	chr22:30606397-30606407 chr22:30606365-30606375
20	EP300	chr22:30606021-30606975	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr22:30606113-30606750	MCF-7	breast:	n/a	chr22:30606673-30606682
22	POLR2A	chr22:30606499-30606689	A549	lung:	n/a	n/a
23	ZBTB33	chr22:30606200-30606839	HCT-116	colon:	n/a	n/a
24	JUND	chr22:30606233-30606954	A549	lung:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
25	EP300	chr22:30606222-30606984	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr22:30606195-30606793	PANC-1	pancreas:	n/a	n/a
27	CREB1	chr22:30606114-30606803	A549	lung:	n/a	n/a
28	STAT3	chr22:30606401-30606601	MCF10A-Er-Src	breast:	n/a	n/a
29	RFX5	chr22:30606412-30606612	HepG2	liver:	n/a	n/a
30	HDAC2	chr22:30606288-30606815	HepG2	liver:	n/a	n/a
31	TEAD4	chr22:30606174-30606872	ECC-1	luminal epithelium:	n/a	n/a
32	TCF7L2	chr22:30606265-30606628	MCF-7	breast:	n/a	n/a
33	RCOR1	chr22:30606328-30606619	K562	blood:	n/a	n/a
34	NR3C1	chr22:30606325-30606588	ECC-1	luminal epithelium:	n/a	chr22:30606397-30606411
35	RAD21	chr22:30606559-30606589	A549	lung:	n/a	n/a
36	MYBL2	chr22:30606379-30606897	HepG2	liver:	n/a	n/a
37	TCF7L2	chr22:30606202-30606861	HCT-116	colon:	n/a	n/a
38	POLR2A	chr22:30606190-30606832	PANC-1	pancreas:	n/a	n/a
39	MAFF	chr22:30606342-30606613	HepG2	liver:	n/a	n/a
40	MAFK	chr22:30606477-30606641	HepG2	liver:	n/a	n/a
41	NR2F2	chr22:30606226-30606820	MCF-7	breast:	n/a	n/a
42	E2F4	chr22:30606405-30606710	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr22:30606244-30606917	HepG2	liver:	n/a	n/a
44	STAT3	chr22:30606300-30606803	MCF10A-Er-Src	breast:	n/a	n/a
45	TAF1	chr22:30606401-30606671	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr22:30606424-30606852	HepG2	liver:	n/a	chr22:30606673-30606682
47	MAX	chr22:30606312-30606744	Hela-S3	cervix:	n/a	chr22:30606673-30606682
48	CEBPB	chr22:30606396-30606930	A549	lung:	n/a	n/a
49	POLR2A	chr22:30606184-30606743	Hela-S3	cervix:	n/a	n/a
50	EP300	chr22:30606204-30606992	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30604880..30606751-chr22:30721942..30724242,2	MCF-7	breast:
2	chr22:30605936..30608865-chr22:30612032..30614985,2	K562	blood:
3	chr22:30584661..30587555-chr22:30606550..30610248,3	MCF-7	breast:
4	chr22:30552521..30555409-chr22:30604715..30606658,2	K562	blood:
5	chr22:30562803..30564528-chr22:30605474..30607789,2	MCF-7	breast:
6	chr22:30600518..30603071-chr22:30604454..30606610,2	K562	blood:
7	chr22:30508949..30512192-chr22:30606244..30608279,3	MCF-7	breast:
8	chr22:30604426..30607194-chr22:30608754..30611954,4	K562	blood:

Variant related genes	Relation type
ENSG00000225676	TF binding region
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16987156	0.83[CHB][hapmap]
rs9614144	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
2	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30598600-30607000	Enhancers	Placenta	Placenta
4	chr22:30600200-30607800	Enhancers	NH-A	brain
5	chr22:30600400-30607000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30600400-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30600400-30607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:30600400-30610000	Enhancers	HMEC	breast
9	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30601400-30606600	Enhancers	HepG2	liver
11	chr22:30601600-30606600	Enhancers	Hela-S3	cervix
12	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:30602000-30607600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:30602000-30608400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:30603000-30607200	Enhancers	HSMMtube	muscle
17	chr22:30603000-30609800	Enhancers	Osteobl	bone
18	chr22:30603400-30606800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30603400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30604000-30607000	Enhancers	Fetal Intestine Small	intestine
24	chr22:30604200-30607000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr22:30604400-30606600	Enhancers	Duodenum Mucosa	Duodenum
26	chr22:30604600-30606800	Enhancers	Brain Angular Gyrus	brain
27	chr22:30604600-30607000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:30604600-30607000	Enhancers	Brain Hippocampus Middle	brain
29	chr22:30604600-30607800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:30604800-30606800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:30604800-30607000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:30604800-30608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:30605000-30606600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:30605000-30607600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr22:30605000-30607800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr22:30605000-30608400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:30605000-30609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:30605200-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:30605400-30606800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr22:30605400-30607000	Enhancers	NHEK	skin
41	chr22:30605400-30607400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:30605400-30609400	Weak transcription	Colonic Mucosa	Colon
43	chr22:30605400-30613400	Weak transcription	Aorta	Aorta
44	chr22:30605600-30606600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:30605600-30607400	Weak transcription	Gastric	stomach
46	chr22:30605600-30607600	Weak transcription	Pancreas	Pancrea
47	chr22:30605600-30608200	Weak transcription	NHLF	lung
48	chr22:30605600-30608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:30605600-30608400	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:30605600-30608400	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links