Variant report

Variant	rs4252222
Chromosome Location	chr5:68664081-68664082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68663484-68665983	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr5:68663507-68666034	K562	blood:	n/a	chr5:68665348-68665359
3	POLR2A	chr5:68664078-68666233	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr5:68663447-68666118	HepG2	liver:	n/a	n/a
5	MXI1	chr5:68663590-68666253	SK-N-SH	brain:	n/a	n/a
6	TAL1	chr5:68664005-68666076	K562	blood:	n/a	chr5:68664173-68664181
7	MYC	chr5:68663526-68666023	K562	blood:	n/a	chr5:68665348-68665359
8	CTCF	chr5:68663721-68664112	K562	blood:	n/a	n/a
9	POLR2A	chr5:68663482-68666039	K562	blood:	n/a	n/a
10	IRF1	chr5:68663655-68666014	K562	blood:	n/a	chr5:68663939-68663953 chr5:68663939-68663952
11	MYC	chr5:68663926-68664126	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:68663871-68665894	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:68664032-68666177	PBDE	blood:	n/a	n/a
14	CTCF	chr5:68663734-68664088	GM12878	blood:	n/a	n/a
15	IRF1	chr5:68663766-68665921	K562	blood:	n/a	chr5:68663939-68663953 chr5:68663939-68663952

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
2	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
3	chr5:68644789..68648896-chr5:68660361..68665573,5	K562	blood:
4	chr5:68664076..68666329-chr5:68681503..68684780,3	MCF-7	breast:
5	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
6	chr5:68618836..68621074-chr5:68663910..68666098,2	MCF-7	breast:
7	chr5:68529171..68532388-chr5:68663415..68666737,3	K562	blood:
8	chr5:68462671..68465247-chr5:68664046..68666511,2	K562	blood:
9	chr5:68484208..68487030-chr5:68662372..68666589,5	K562	blood:
10	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
11	chr5:68529081..68531056-chr5:68663452..68665244,2	MCF-7	breast:
12	chr5:68484557..68486514-chr5:68663480..68665519,2	MCF-7	breast:
13	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
14	chr5:68485320..68486974-chr5:68663729..68665537,2	MCF-7	breast:
15	chr5:68664038..68667254-chr5:68786797..68789724,5	MCF-7	breast:
16	chr5:68628802..68630677-chr5:68662896..68664873,2	K562	blood:
17	chr5:68483355..68487362-chr5:68663859..68666403,7	K562	blood:
18	chr5:68461424..68464982-chr5:68663773..68666998,5	K562	blood:

No data

Variant related genes	Relation type
RAD17	TF binding region
TAF9	TF binding region
ENSG00000153044	Chromatin interaction
ENSG00000271045	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000215006	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17236219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17236618	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17236639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
2	chr5:68651400-68664400	Weak transcription	Aorta	Aorta
3	chr5:68653200-68664600	Weak transcription	Esophagus	oesophagus
4	chr5:68661600-68664200	Weak transcription	Ovary	ovary
5	chr5:68662400-68664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:68663000-68664200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:68663000-68664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:68663200-68664200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:68663200-68664200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:68663400-68664200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:68663400-68664200	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:68663400-68664200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:68663400-68664200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:68663400-68664200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:68663400-68664200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:68663400-68664200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:68663400-68664200	Flanking Active TSS	Hela-S3	cervix
18	chr5:68663400-68664400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:68663400-68664600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:68663400-68666600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:68663400-68667800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:68663400-68667800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:68663600-68664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:68663600-68664200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:68663600-68664200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:68663600-68664200	Enhancers	Primary B cells from cord blood	blood
27	chr5:68663600-68664200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:68663600-68664200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:68663600-68664200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:68663600-68664200	Enhancers	Brain Substantia Nigra	brain
31	chr5:68663600-68664200	Enhancers	Colon Smooth Muscle	Colon
32	chr5:68663600-68664200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:68663600-68664200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:68663600-68664400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:68663600-68664400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:68663600-68664600	Weak transcription	Small Intestine	intestine
37	chr5:68663600-68664800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:68663600-68664800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:68663600-68666600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:68663600-68666600	Active TSS	HSMM	muscle
41	chr5:68663600-68666800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:68663600-68666800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:68663600-68667000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr5:68663600-68667600	Active TSS	K562	blood
45	chr5:68663800-68664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:68663800-68664200	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:68663800-68664200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:68663800-68664200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:68663800-68664200	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:68663800-68664200	Weak transcription	Fetal Stomach	stomach

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