Variant report

Variant	rs6822688
Chromosome Location	chr4:79571443-79571444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:79571375-79571773	MCF10A-Er-Src	breast:	n/a	n/a
2	RCOR1	chr4:79571305-79572207	K562	blood:	n/a	n/a
3	MAZ	chr4:79571186-79572186	K562	blood:	n/a	n/a
4	TBL1XR1	chr4:79571412-79571556	K562	blood:	n/a	n/a
5	FOSL2	chr4:79571156-79571694	A549	lung:	n/a	n/a
6	POLR2A	chr4:79571292-79571691	U87	brain:	n/a	n/a
7	JUND	chr4:79571132-79572215	K562	blood:	n/a	n/a
8	JUN	chr4:79571261-79571711	K562	blood:	n/a	n/a
9	HCFC1	chr4:79571366-79571662	K562	blood:	n/a	n/a
10	PBX3	chr4:79571149-79571797	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr4:79571032-79571697	SK-N-SH	brain:	n/a	n/a
12	CUX1	chr4:79571379-79571841	K562	blood:	n/a	n/a
13	RCOR1	chr4:79571135-79572231	K562	blood:	n/a	n/a
14	POLR2A	chr4:79571268-79571838	U87	brain:	n/a	n/a
15	FOS	chr4:79571265-79571785	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF7L2	chr4:79571199-79571634	MCF-7	breast:	n/a	n/a
17	POLR2A	chr4:79571238-79571653	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr4:79571408-79571592	K562	blood:	n/a	n/a
19	CEBPD	chr4:79571145-79571728	K562	blood:	n/a	n/a
20	ZMIZ1	chr4:79571049-79572211	K562	blood:	n/a	n/a
21	POLR2A	chr4:79571357-79571620	K562	blood:	n/a	n/a
22	MYC	chr4:79571303-79571866	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr4:79571303-79572161	K562	blood:	n/a	chr4:79571544-79571555
24	TAL1	chr4:79571276-79572265	K562	blood:	n/a	n/a
25	MYC	chr4:79571260-79572187	K562	blood:	n/a	n/a
26	STAT3	chr4:79571301-79571908	MCF10A-Er-Src	breast:	n/a	n/a
27	GATA3	chr4:79571179-79571702	MCF-7	breast:	n/a	n/a
28	GATA2	chr4:79571112-79571698	K562	blood:	n/a	n/a
29	POLR2A	chr4:79571374-79571633	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr4:79571063-79571684	MCF-7	breast:	n/a	n/a
31	PBX3	chr4:79571025-79571885	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr4:79570969-79571836	MCF-7	breast:	n/a	n/a
33	MAFK	chr4:79571269-79571687	IMR90	lung:	n/a	chr4:79571467-79571482
34	JUN	chr4:79570586-79572347	K562	blood:	n/a	n/a
35	STAT3	chr4:79571407-79571684	MCF10A-Er-Src	breast:	n/a	n/a
36	MAFF	chr4:79571375-79571609	K562	blood:	n/a	n/a
37	CEBPB	chr4:79571201-79571764	K562	blood:	n/a	chr4:79571544-79571555
38	GATA3	chr4:79570989-79571840	SK-N-SH	brain:	n/a	n/a
39	TEAD4	chr4:79571061-79572361	K562	blood:	n/a	n/a
40	MYC	chr4:79571415-79572210	K562	blood:	n/a	n/a
41	CEBPB	chr4:79571204-79571852	MCF-7	breast:	n/a	chr4:79571544-79571555
42	FOS	chr4:79571190-79571673	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr4:79571277-79571571	SK-N-SH_RA	brain:	n/a	n/a
44	GATA3	chr4:79571131-79571740	MCF-7	breast:	n/a	n/a
45	ZNF217	chr4:79571065-79571639	MCF-7	breast:	n/a	n/a
46	MAFK	chr4:79571322-79571586	HepG2	liver:	n/a	chr4:79571467-79571482
47	CEBPB	chr4:79571297-79571708	A549	lung:	n/a	chr4:79571544-79571555
48	GATA1	chr4:79570957-79572456	PBDE	blood:	n/a	n/a
49	GATA2	chr4:79571385-79572160	K562	blood:	n/a	n/a
50	ATF3	chr4:79571269-79571682	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
2	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
3	chr4:79571366..79573433-chr4:79699664..79702069,2	K562	blood:
4	chr4:79571062..79573548-chr4:79735105..79737173,2	K562	blood:
5	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
6	chr4:79563690..79568625-chr4:79568843..79572048,4	K562	blood:
7	chr4:79571438..79573249-chr4:79577975..79580336,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIGD1AP13	TF binding region
ENSG00000138756	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10028457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944942	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28362073	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28538252	1.00[AMR][1000 genomes]
rs28565274	1.00[AMR][1000 genomes]
rs72861215	1.00[AMR][1000 genomes]
rs72861218	1.00[AMR][1000 genomes]
rs72861226	1.00[AMR][1000 genomes]
rs72861231	1.00[AMR][1000 genomes]
rs72861238	1.00[AMR][1000 genomes]
rs7661163	1.00[AMR][1000 genomes]
rs7662620	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79566000-79573200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:79567600-79573600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:79567800-79573600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:79567800-79574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
11	chr4:79568000-79571600	Weak transcription	Spleen	Spleen
12	chr4:79568000-79572800	Weak transcription	Fetal Lung	lung
13	chr4:79568000-79573600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:79568000-79573600	Weak transcription	Left Ventricle	heart
15	chr4:79568000-79573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:79568000-79573800	Weak transcription	Brain Substantia Nigra	brain
17	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
19	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
20	chr4:79568200-79571800	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:79568200-79573400	Weak transcription	Fetal Stomach	stomach
22	chr4:79569000-79573000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:79569200-79572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:79569200-79572600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:79569400-79572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:79569600-79571800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
28	chr4:79570000-79571600	Enhancers	NHEK	skin
29	chr4:79570000-79573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:79570200-79571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:79570200-79573000	Weak transcription	Brain Anterior Caudate	brain
32	chr4:79570200-79573000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:79570400-79573800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:79570400-79574800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:79570600-79573200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:79570600-79574200	Enhancers	NHLF	lung
37	chr4:79570800-79571600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:79570800-79572200	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:79570800-79572200	Enhancers	A549	lung
40	chr4:79570800-79572200	Enhancers	HMEC	breast
41	chr4:79570800-79572800	Enhancers	Hela-S3	cervix
42	chr4:79570800-79573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:79570800-79574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:79571000-79571800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:79571000-79571800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:79571000-79571800	Enhancers	Placenta	Placenta
47	chr4:79571000-79572000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:79571000-79572000	Enhancers	Fetal Intestine Large	intestine
49	chr4:79571000-79572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:79571000-79572200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links