Variant report

Variant	rs4730544
Chromosome Location	chr7:112059842-112059843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:112059841-112060106	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
2	chr7:112055161..112057071-chr7:112058715..112061690,2	MCF-7	breast:
3	chr7:112054145..112057717-chr7:112058317..112061377,3	K562	blood:
4	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
5	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:

No data

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11761827	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771128	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12216563	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223482	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34020242	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35734252	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727770	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58295122	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62474016	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6944057	0.86[EUR][1000 genomes]
rs6969907	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976652	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720639	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7780160	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798715	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7810707	0.86[EUR][1000 genomes]
rs9649350	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
3	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:112055400-112060400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:112056000-112060400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:112056400-112060200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:112056400-112061800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:112056400-112061800	Weak transcription	Thymus	Thymus
11	chr7:112056600-112060400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:112056600-112061800	Weak transcription	Fetal Thymus	thymus
13	chr7:112056800-112060200	Weak transcription	Osteobl	bone
14	chr7:112056800-112060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:112056800-112062400	Weak transcription	HUVEC	blood vessel
16	chr7:112057000-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:112057200-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:112057400-112061200	Weak transcription	Dnd41	blood
19	chr7:112059400-112061800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:112059600-112060400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:112059800-112060000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:112059800-112060000	Enhancers	Esophagus	oesophagus
23	chr7:112059800-112060200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:112059800-112060200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:112059800-112060200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:112059800-112060200	Enhancers	NHEK	skin
27	chr7:112059800-112060400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:112059800-112060400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:112059800-112060400	Enhancers	HepG2	liver
30	chr7:112059800-112060400	Enhancers	HMEC	breast
31	chr7:112059800-112060800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:112059800-112061000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:112059800-112061200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:112059800-112061800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr7:112059800-112064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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