Variant report

Variant	rs4689588
Chromosome Location	chr4:7073187-7073188
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	CTCF	chr4:7073080-7073230	GM12878	blood:	n/a	n/a
2	CTCF	chr4:7072289-7073304	SK-N-SH	brain:	n/a	chr4:7072665-7072683 chr4:7073043-7073064 chr4:7072667-7072680 chr4:7072660-7072681
3	JUN	chr4:7072298-7073275	K562	blood:	n/a	chr4:7072344-7072353 chr4:7072447-7072456
4	RAD21	chr4:7072128-7073193	SK-N-SH	brain:	n/a	chr4:7072663-7072682 chr4:7072667-7072681
5	MAX	chr4:7072405-7073293	K562	blood:	n/a	chr4:7072899-7072908 chr4:7072899-7072908 chr4:7072898-7072908 chr4:7072900-7072907
6	CTCF	chr4:7073160-7073310	HPF	lung:	n/a	n/a
7	CTCF	chr4:7073060-7073210	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7041068..7043471-chr4:7072135..7073962,2	K562	blood:
2	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
3	chr4:6680867..6683332-chr4:7071667..7073864,2	K562	blood:
4	chr4:6976052..6976748-chr4:7072785..7073335,2	K562	blood:
5	chr4:7068769..7071133-chr4:7071155..7076022,5	MCF-7	breast:
6	chr4:6718707..6721672-chr4:7072650..7075143,2	K562	blood:
7	chr4:6721368..6723999-chr4:7071315..7074137,2	MCF-7	breast:
8	chr4:6708335..6709865-chr4:7073171..7074990,2	MCF-7	breast:
9	chr4:6918292..6921152-chr4:7071780..7074246,2	MCF-7	breast:
10	chr4:6913495..6915954-chr4:7072774..7077001,4	K562	blood:
11	chr4:7033647..7034430-chr4:7072236..7073197,2	K562	blood:

Variant related genes	Relation type
GRPEL1	TF binding region
ENSG00000109519	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000245748	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10012093	0.87[EUR][1000 genomes]
rs10937781	1.00[EUR][1000 genomes]
rs13113578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35580914	1.00[AMR][1000 genomes]
rs3951347	1.00[EUR][1000 genomes]
rs4234794	1.00[AFR][1000 genomes]
rs4513569	1.00[EUR][1000 genomes]
rs4689062	0.90[EUR][1000 genomes]
rs4689063	0.95[EUR][1000 genomes]
rs4689582	0.95[EUR][1000 genomes]
rs62289160	1.00[AFR][1000 genomes]
rs62289165	1.00[AFR][1000 genomes]
rs62291193	0.85[EUR][1000 genomes]
rs62291194	0.85[EUR][1000 genomes]
rs62291195	0.85[EUR][1000 genomes]
rs62291196	0.85[EUR][1000 genomes]
rs6814746	1.00[EUR][1000 genomes]
rs6832413	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6841824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6849547	0.90[EUR][1000 genomes]
rs7666504	1.00[EUR][1000 genomes]
rs7673889	1.00[AFR][1000 genomes]
rs7699619	1.00[EUR][1000 genomes]
rs871133	0.90[EUR][1000 genomes]
rs907522	1.00[EUR][1000 genomes]
rs907524	1.00[EUR][1000 genomes]
rs907525	1.00[EUR][1000 genomes]
rs9985704	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7071000-7075200	Weak transcription	A549	lung
2	chr4:7071000-7075600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:7071000-7075600	Weak transcription	Psoas Muscle	Psoas
4	chr4:7071000-7075800	Weak transcription	Esophagus	oesophagus
5	chr4:7071000-7075800	Weak transcription	Hela-S3	cervix
6	chr4:7071000-7077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:7071000-7078600	Weak transcription	Fetal Heart	heart
8	chr4:7071000-7086200	Weak transcription	Right Atrium	heart
9	chr4:7071200-7075200	Weak transcription	HSMM	muscle
10	chr4:7071200-7075600	Weak transcription	HSMMtube	muscle
11	chr4:7071400-7083200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:7071600-7074000	Weak transcription	Fetal Brain Female	brain
13	chr4:7072400-7073200	Enhancers	K562	blood
14	chr4:7072400-7073800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:7072800-7073200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr4:7072800-7073200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:7072800-7073400	Weak transcription	HMEC	breast
18	chr4:7072800-7073600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7073000-7073200	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr4:7073000-7075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:7073000-7075400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:7073000-7075800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:7073000-7077800	Weak transcription	Pancreas	Pancrea

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