Variant report

Variant	rs10028457
Chromosome Location	chr4:79571001-79571002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:79570969-79571836	MCF-7	breast:	n/a	n/a
2	JUN	chr4:79570586-79572347	K562	blood:	n/a	n/a
3	GATA3	chr4:79570989-79571840	SK-N-SH	brain:	n/a	n/a
4	GATA1	chr4:79570957-79572456	PBDE	blood:	n/a	n/a
5	ARID3A	chr4:79570959-79572326	K562	blood:	n/a	n/a
6	GATA3	chr4:79570892-79571886	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr4:79570943-79571899	MCF-7	breast:	n/a	n/a
8	GATA1	chr4:79570315-79573565	K562	blood:	n/a	n/a

No data

(count:4 , 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	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
4	chr4:79563690..79568625-chr4:79568843..79572048,4	K562	blood:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10028815	0.93[YRI][hapmap]
rs10029214	0.93[YRI][hapmap]
rs11935221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944942	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946188	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12510411	0.93[YRI][hapmap]
rs12639656	0.93[YRI][hapmap]
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]
rs4495064	0.93[YRI][hapmap]
rs4612	0.93[YRI][hapmap]
rs6822688	1.00[AFR][1000 genomes];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[YRI][hapmap];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	chr4:79564400-79571400	Weak transcription	Fetal Heart	heart
3	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
4	chr4:79564400-79589600	Weak transcription	Lung	lung
5	chr4:79566000-79573200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:79567200-79571200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:79567600-79573600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:79567800-79573600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:79567800-79574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
13	chr4:79568000-79571400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:79568000-79571400	Enhancers	K562	blood
15	chr4:79568000-79571600	Weak transcription	Spleen	Spleen
16	chr4:79568000-79572800	Weak transcription	Fetal Lung	lung
17	chr4:79568000-79573600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:79568000-79573600	Weak transcription	Left Ventricle	heart
19	chr4:79568000-79573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:79568000-79573800	Weak transcription	Brain Substantia Nigra	brain
21	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
23	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
24	chr4:79568200-79571400	Weak transcription	Adipose Nuclei	Adipose
25	chr4:79568200-79571800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:79568200-79573400	Weak transcription	Fetal Stomach	stomach
27	chr4:79569000-79573000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:79569200-79572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:79569200-79572600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:79569400-79572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:79569600-79571800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
33	chr4:79570000-79571600	Enhancers	NHEK	skin
34	chr4:79570000-79573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:79570200-79571200	Weak transcription	Primary B cells from cord blood	blood
36	chr4:79570200-79571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:79570200-79573000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:79570200-79573000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:79570400-79573800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:79570400-79574800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:79570600-79573200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:79570600-79574200	Enhancers	NHLF	lung
43	chr4:79570800-79571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:79570800-79571600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:79570800-79572200	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:79570800-79572200	Enhancers	A549	lung
47	chr4:79570800-79572200	Enhancers	HMEC	breast
48	chr4:79570800-79572800	Enhancers	Hela-S3	cervix
49	chr4:79570800-79573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:79570800-79574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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