Variant report

Variant	rs5753048
Chromosome Location	chr22:30605539-30605540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:30604575-30605682	A549	lung:	n/a	n/a
2	POLR2A	chr22:30604845-30605647	K562	blood:	n/a	n/a
3	MAX	chr22:30604397-30605757	A549	lung:	n/a	n/a
4	POLR2A	chr22:30604790-30605967	HCT-116	colon:	n/a	n/a
5	MAX	chr22:30604748-30605594	K562	blood:	n/a	n/a
6	POLR2A	chr22:30605111-30606030	PANC-1	pancreas:	n/a	n/a
7	MAX	chr22:30604677-30605676	HepG2	liver:	n/a	n/a
8	JUN	chr22:30604557-30605800	K562	blood:	n/a	n/a
9	POLR2A	chr22:30604728-30605547	HepG2	liver:	n/a	n/a
10	POLR2A	chr22:30604831-30605619	K562	blood:	n/a	n/a
11	POLR2A	chr22:30605442-30605544	HepG2	liver:	n/a	n/a
12	GATA1	chr22:30604344-30605655	K562	blood:	n/a	chr22:30604428-30604445
13	POLR2A	chr22:30604743-30605609	K562	blood:	n/a	n/a
14	MAX	chr22:30604821-30605547	K562	blood:	n/a	n/a
15	BHLHE40	chr22:30604677-30605761	K562	blood:	n/a	n/a
16	MAX	chr22:30604576-30607126	HCT-116	colon:	n/a	chr22:30606673-30606682
17	MAX	chr22:30604656-30606012	HCT-116	colon:	n/a	n/a
18	POLR2A	chr22:30599869-30607773	IMR90	lung:	n/a	n/a
19	SP1	chr22:30604343-30607174	HCT-116	colon:	n/a	chr22:30604677-30604691
20	POLR2A	chr22:30605000-30607014	MCF-7	breast:	n/a	n/a
21	MYC	chr22:30604650-30605696	A549	lung:	n/a	n/a
22	TCF12	chr22:30604677-30605612	A549	lung:	n/a	n/a
23	HEY1	chr22:30605196-30605586	K562	blood:	n/a	n/a
24	POLR2A	chr22:30604792-30605974	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30604880..30606751-chr22:30721942..30724242,2	MCF-7	breast:
2	chr22:30552521..30555409-chr22:30604715..30606658,2	K562	blood:
3	chr22:30562803..30564528-chr22:30605474..30607789,2	MCF-7	breast:
4	chr22:30600518..30603071-chr22:30604454..30606610,2	K562	blood:
5	chr22:30604426..30607194-chr22:30608754..30611954,4	K562	blood:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12483946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12484740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1476514	1.00[CEU][hapmap]
rs2106430	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34391152	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35539897	0.83[EUR][1000 genomes]
rs4823080	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4823081	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4823082	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753014	1.00[CEU][hapmap]
rs5753046	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763701	1.00[CEU][hapmap]
rs5763734	1.00[CEU][hapmap]
rs5763746	1.00[CEU][hapmap]
rs5763872	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6006393	0.86[CHB][hapmap]
rs6006399	0.81[ASN][1000 genomes]
rs71331230	0.82[EUR][1000 genomes]
rs757026	1.00[CEU][hapmap]
rs766011	0.85[CHB][hapmap]
rs975704	1.00[CEU][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:82 , 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	chr22:30599800-30605600	Enhancers	NHLF	lung
5	chr22:30600200-30607800	Enhancers	NH-A	brain
6	chr22:30600400-30606000	Enhancers	Ovary	ovary
7	chr22:30600400-30607000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30600400-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30600400-30607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:30600400-30610000	Enhancers	HMEC	breast
11	chr22:30600800-30606200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:30601400-30605600	Enhancers	HUVEC	blood vessel
14	chr22:30601400-30606600	Enhancers	HepG2	liver
15	chr22:30601600-30605600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:30601600-30605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:30601600-30606600	Enhancers	Hela-S3	cervix
18	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:30602000-30606200	Enhancers	HSMM	muscle
21	chr22:30602000-30607600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:30602000-30608400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:30602200-30606200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:30602400-30605800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:30603000-30607200	Enhancers	HSMMtube	muscle
26	chr22:30603000-30609800	Enhancers	Osteobl	bone
27	chr22:30603400-30606200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:30603400-30606200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30603400-30606200	Enhancers	A549	lung
30	chr22:30603400-30606800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:30603400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:30603800-30606200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30604000-30605600	Enhancers	Gastric	stomach
37	chr22:30604000-30605800	Enhancers	Spleen	Spleen
38	chr22:30604000-30606000	Enhancers	Fetal Lung	lung
39	chr22:30604000-30606000	Enhancers	Fetal Stomach	stomach
40	chr22:30604000-30607000	Enhancers	Fetal Intestine Small	intestine
41	chr22:30604200-30605600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:30604200-30605600	Enhancers	Fetal Intestine Large	intestine
43	chr22:30604200-30605600	Enhancers	Fetal Kidney	kidney
44	chr22:30604200-30605600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr22:30604200-30605800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:30604200-30606400	Enhancers	K562	blood
47	chr22:30604200-30607000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr22:30604400-30605600	Enhancers	Colon Smooth Muscle	Colon
49	chr22:30604400-30605800	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:30604400-30605800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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