Variant report

Variant	rs73007453
Chromosome Location	chr4:175042185-175042186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr4:175041455-175042522	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr4:175042120-175042270	HEK293	kidney:	n/a	n/a
3	SMC3	chr4:175040915-175042565	SK-N-SH	brain:	n/a	chr4:175041831-175041845
4	CTCF	chr4:175041339-175042276	A549	lung:	n/a	chr4:175041824-175041845 chr4:175041836-175041843 chr4:175041829-175041847 chr4:175041830-175041846
5	RAD21	chr4:175038325-175042663	SK-N-SH	brain:	n/a	chr4:175039943-175039962 chr4:175041836-175041845 chr4:175041827-175041846 chr4:175040350-175040362
6	CTCF	chr4:175042060-175042210	NHEK	skin:	n/a	n/a
7	CTCF	chr4:175042080-175042230	GM12870	blood:	n/a	n/a
8	GATA2	chr4:175041051-175042394	SH-SY5Y	brain:	n/a	chr4:175042191-175042198 chr4:175042191-175042198 chr4:175042191-175042198
9	CTCF	chr4:175042100-175042250	GM12869	blood:	n/a	n/a
10	CTCF	chr4:175042040-175042190	HRE	kidney:	n/a	n/a
11	CTCF	chr4:175042120-175042270	GM12866	blood:	n/a	n/a
12	CTCF	chr4:175042080-175042230	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr4:175042112-175042211	GM10266	blood:	n/a	n/a
14	CTCF	chr4:175041401-175042631	SK-N-SH	brain:	n/a	chr4:175041824-175041845 chr4:175041836-175041843 chr4:175041829-175041847 chr4:175041830-175041846
15	CTCF	chr4:175042116-175042295	K562	blood:	n/a	n/a
16	CTCF	chr4:175042140-175042290	NHDF-neo	bronchial:	n/a	n/a
17	KAP1	chr4:175041943-175042223	K562	blood:	n/a	n/a
18	CTCF	chr4:175042120-175042270	HCM	heart:	n/a	n/a
19	CTCF	chr4:175042160-175042310	SAEC	small airway:	n/a	n/a
20	MXI1	chr4:175038187-175042712	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr4:175042060-175042210	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr4:175042080-175042230	GM12868	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175041788..175043529-chr4:175245887..175248482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248174	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10222954	1.00[AMR][1000 genomes]
rs61647945	1.00[AMR][1000 genomes]
rs6835863	1.00[AMR][1000 genomes]
rs71594079	1.00[AMR][1000 genomes]
rs73007458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009361	1.00[AMR][1000 genomes]
rs9993131	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830155	chr4:174943809-175136483	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175038800-175042200	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:175041000-175042600	Enhancers	Fetal Heart	heart
3	chr4:175041200-175042200	Active TSS	Aorta	Aorta
4	chr4:175041800-175042200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:175041800-175042200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:175041800-175042200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:175041800-175042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:175041800-175042200	Enhancers	Fetal Stomach	stomach
9	chr4:175041800-175042400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:175041800-175042600	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:175041800-175043200	Weak transcription	Hela-S3	cervix
12	chr4:175041800-175043400	Weak transcription	Adipose Nuclei	Adipose
13	chr4:175042000-175042200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:175042000-175042200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:175042000-175042200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:175042000-175042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:175042000-175042600	Enhancers	Ovary	ovary

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