Variant report

Variant	rs73248647
Chromosome Location	chr4:53417008-53417009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53416997..53419282-chr4:53420354..53422590,2	K562	blood:
2	chr4:53414793..53417097-chr4:53846819..53849228,3	MCF-7	breast:
3	chr4:53415337..53418016-chr4:53578498..53580053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212588	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000226950	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73248668	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv879012	chr4:52976937-53421172	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv999397	chr4:53157525-53448384	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482581	chr4:53310749-53480710	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1009480	chr4:53338708-53436560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537092	chr4:53338708-53436560	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53410200-53417600	Weak transcription	Right Atrium	heart
2	chr4:53413800-53417600	Weak transcription	Ovary	ovary
3	chr4:53415200-53417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:53415200-53417200	Enhancers	NHEK	skin
5	chr4:53415200-53417400	Enhancers	HMEC	breast
6	chr4:53415200-53418000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:53415600-53417400	Weak transcription	Left Ventricle	heart
8	chr4:53415800-53417200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:53415800-53418200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:53416200-53420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:53416600-53421000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:53416600-53421000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:53416600-53421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:53416800-53418600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:53416800-53420200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:53416800-53420200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:53416800-53420400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:53416800-53420600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:53416800-53420600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:53416800-53420800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:53416800-53420800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:53417000-53417800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:53417000-53417800	Flanking Active TSS	Fetal Heart	heart
24	chr4:53417000-53420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:53417000-53420400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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