Variant report

Variant	rs4258384
Chromosome Location	chr11:64828975-64828976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64828642-64828987	K562	blood:	n/a	n/a
2	CTCF	chr11:64828556-64829006	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr11:64828642-64828976	HepG2	liver:	n/a	n/a
4	TEAD4	chr11:64828438-64829019	K562	blood:	n/a	n/a
5	RAD21	chr11:64828565-64829035	A549	lung:	n/a	n/a
6	CTCF	chr11:64828557-64829034	MCF-7	breast:	n/a	n/a
7	RAD21	chr11:64828641-64829037	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr11:64828548-64829046	A549	lung:	n/a	n/a
9	CTCF	chr11:64828638-64829008	K562	blood:	n/a	n/a
10	CTCF	chr11:64828568-64829012	HepG2	liver:	n/a	n/a
11	RAD21	chr11:64828551-64828985	HepG2	liver:	n/a	n/a
12	CTCF	chr11:64828616-64829051	A549	lung:	n/a	n/a
13	RAD21	chr11:64828628-64829025	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:64828565-64829026	A549	lung:	n/a	n/a
15	CTCF	chr11:64828622-64829005	K562	blood:	n/a	n/a
16	CTCF	chr11:64828500-64829049	K562	blood:	n/a	n/a
17	RAD21	chr11:64828621-64828979	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:64828959-64829059	K562	blood:	n/a	n/a
19	RAD21	chr11:64828618-64829048	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64794960..64795709-chr11:64828373..64829109,2	K562	blood:
2	chr11:64618737..64620906-chr11:64828320..64829990,2	K562	blood:
3	chr11:64828591..64830129-chr11:64831229..64833920,2	K562	blood:
4	chr11:64808273..64810184-chr11:64828627..64831300,2	MCF-7	breast:
5	chr11:64827778..64830211-chr11:64945201..64946967,2	MCF-7	breast:
6	chr11:64807339..64812721-chr11:64826585..64832527,8	K562	blood:
7	chr11:64828223..64830390-chr11:65265457..65267849,3	K562	blood:
8	chr11:64781693..64784252-chr11:64827327..64829336,2	MCF-7	breast:
9	chr11:64826825..64829734-chr11:64831160..64833314,2	MCF-7	breast:
10	chr11:64614467..64615108-chr11:64828762..64829265,2	K562	blood:
11	chr11:64820335..64821845-chr11:64827193..64829359,2	MCF-7	breast:
12	chr11:64822490..64825444-chr11:64828190..64831057,4	K562	blood:
13	chr11:64826169..64829330-chr11:64836105..64838372,3	MCF-7	breast:
14	chr11:64794851..64795607-chr11:64828381..64829218,3	MCF-7	breast:
15	chr11:64780648..64781149-chr11:64828725..64829287,2	MCF-7	breast:
16	chr11:64812866..64814885-chr11:64827352..64829665,2	K562	blood:
17	chr11:64828596..64831631-chr11:64831856..64834174,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
NAALADL1	TF binding region
ENSG00000168061	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000110025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1196043	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1206196	0.87[ASN][1000 genomes]
rs12362669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12363102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706937	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35661464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759041	0.81[EUR][1000 genomes]
rs3850946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544944	0.97[ASN][1000 genomes]
rs769440	0.85[AFR][1000 genomes];0.90[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64813800-64833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64822400-64829800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
4	chr11:64825400-64831000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:64827200-64830000	Enhancers	GM12878-XiMat	blood
6	chr11:64828000-64829800	Weak transcription	Spleen	Spleen
7	chr11:64828000-64830800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:64828200-64833200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:64828400-64829000	Enhancers	K562	blood
10	chr11:64828400-64833400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:64828600-64831400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:64828600-64833800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:64828600-64834400	Weak transcription	Fetal Thymus	thymus
14	chr11:64828800-64829000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:64828800-64830600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64828800-64830600	Weak transcription	HepG2	liver
17	chr11:64828800-64830800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:64828800-64832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:64828800-64833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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