Variant report

Variant	rs9614164
Chromosome Location	chr22:30606986-30606987
allele	C/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	POLR2A	chr22:30606104-30607771	HCT-116	colon:	n/a	n/a
2	FOXM1	chr22:30606093-30607114	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr22:30606093-30607066	A549	lung:	n/a	chr22:30606673-30606682
4	FOSL1	chr22:30605938-30607247	HCT-116	colon:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
5	TCF12	chr22:30606072-30606988	ECC-1	luminal epithelium:	n/a	chr22:30606397-30606407 chr22:30606365-30606375
6	POLR2A	chr22:30606957-30607139	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr22:30606204-30606992	SK-N-SH_RA	brain:	n/a	n/a
8	E2F6	chr22:30606157-30607172	A549	lung:	n/a	n/a
9	FOXM1	chr22:30606281-30606986	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr22:30606007-30607194	HCT-116	colon:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
11	EP300	chr22:30606061-30607220	A549	lung:	n/a	n/a
12	SP1	chr22:30606099-30607089	A549	lung:	n/a	n/a
13	SP1	chr22:30606212-30607115	A549	lung:	n/a	n/a
14	FOSL1	chr22:30606131-30607010	HCT-116	colon:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
15	EP300	chr22:30606175-30607100	A549	lung:	n/a	n/a
16	BCL3	chr22:30606348-30607112	A549	lung:	n/a	n/a
17	MAX	chr22:30604576-30607126	HCT-116	colon:	n/a	chr22:30606673-30606682
18	EP300	chr22:30606248-30607004	SK-N-SH_RA	brain:	n/a	n/a
19	CEBPB	chr22:30606203-30607100	A549	lung:	n/a	n/a
20	POLR2A	chr22:30599869-30607773	IMR90	lung:	n/a	n/a
21	SP1	chr22:30604343-30607174	HCT-116	colon:	n/a	chr22:30604677-30604691
22	FOSL2	chr22:30606249-30607020	SK-N-SH	brain:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
23	POLR2A	chr22:30605000-30607014	MCF-7	breast:	n/a	n/a
24	CEBPB	chr22:30606113-30607068	HCT-116	colon:	n/a	n/a
25	SP1	chr22:30605947-30607142	HCT-116	colon:	n/a	n/a
26	GATA3	chr22:30606096-30607222	A549	lung:	n/a	chr22:30606705-30606714
27	TCF12	chr22:30606048-30607190	A549	lung:	n/a	chr22:30606397-30606407 chr22:30606365-30606375
28	POLR2A	chr22:30605973-30607011	HCT-116	colon:	n/a	n/a
29	FOSL2	chr22:30606078-30607120	A549	lung:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
30	POLR2A	chr22:30606971-30607719	PANC-1	pancreas:	n/a	n/a
31	TCF12	chr22:30606131-30607151	SK-N-SH	brain:	n/a	chr22:30606397-30606407 chr22:30606365-30606375
32	JUND	chr22:30606129-30607106	HCT-116	colon:	n/a	chr22:30606502-30606514 chr22:30606703-30606712
33	EP300	chr22:30606223-30607049	SK-N-SH	brain:	n/a	n/a
34	MAX	chr22:30606027-30607103	A549	lung:	n/a	chr22:30606673-30606682
35	TCF12	chr22:30606149-30607004	ECC-1	luminal epithelium:	n/a	chr22:30606397-30606407 chr22:30606365-30606375

No.	Distal block	Cell Line	Cell type
1	chr22:30605936..30608865-chr22:30612032..30614985,2	K562	blood:
2	chr22:30584661..30587555-chr22:30606550..30610248,3	MCF-7	breast:
3	chr22:30562803..30564528-chr22:30605474..30607789,2	MCF-7	breast:
4	chr22:30508949..30512192-chr22:30606244..30608279,3	MCF-7	breast:
5	chr22:30604426..30607194-chr22:30608754..30611954,4	K562	blood:

Variant related genes	Relation type
ENSG00000225676	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12169153	1.00[JPT][hapmap]
rs12169403	1.00[CHB][hapmap]
rs6006417	1.00[JPT][hapmap]
rs9614165	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:75 , 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	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:30602000-30607600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr22:30602000-30608400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:30603000-30607200	Enhancers	HSMMtube	muscle
15	chr22:30603000-30609800	Enhancers	Osteobl	bone
16	chr22:30603400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30604000-30607000	Enhancers	Fetal Intestine Small	intestine
21	chr22:30604200-30607000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:30604600-30607000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:30604600-30607000	Enhancers	Brain Hippocampus Middle	brain
24	chr22:30604600-30607800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:30604800-30607000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:30604800-30608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30605000-30607600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr22:30605000-30607800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr22:30605000-30608400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:30605000-30609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:30605200-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:30605400-30607000	Enhancers	NHEK	skin
33	chr22:30605400-30607400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:30605400-30609400	Weak transcription	Colonic Mucosa	Colon
35	chr22:30605400-30613400	Weak transcription	Aorta	Aorta
36	chr22:30605600-30607400	Weak transcription	Gastric	stomach
37	chr22:30605600-30607600	Weak transcription	Pancreas	Pancrea
38	chr22:30605600-30608200	Weak transcription	NHLF	lung
39	chr22:30605600-30608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30605600-30608400	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:30605600-30608400	Weak transcription	Fetal Intestine Large	intestine
42	chr22:30605600-30608400	Weak transcription	HUVEC	blood vessel
43	chr22:30605600-30610600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
45	chr22:30605800-30607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30605800-30607600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:30605800-30608400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr22:30605800-30608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:30605800-30608400	Weak transcription	Fetal Thymus	thymus
50	chr22:30605800-30608400	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links