Variant report

Variant	rs4467248
Chromosome Location	chr2:11816978-11816979
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	chr2:11816600-11817113	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
2	RAD21	chr2:11816640-11817119	MCF-7	breast:	n/a	chr2:11817013-11817027
3	CTCF	chr2:11816641-11817079	K562	blood:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
4	CTCF	chr2:11816860-11817010	BE2_C	brain:	n/a	n/a
5	CTCF	chr2:11816840-11816990	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr2:11816522-11817084	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
7	RAD21	chr2:11816745-11817013	HepG2	liver:	n/a	n/a
8	RAD21	chr2:11816231-11816987	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr2:11816837-11816980	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:11816339-11817010	A549	lung:	n/a	n/a
11	CTCF	chr2:11816838-11816990	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:11816666-11816987	HepG2	liver:	n/a	n/a
13	ZNF143	chr2:11816868-11817055	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:11816779-11817006	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:11816816-11816985	MCF-7	breast:	n/a	n/a
16	RAD21	chr2:11816575-11817106	MCF-7	breast:	n/a	chr2:11817013-11817027
17	CTCF	chr2:11816724-11817021	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000228496	TF binding region
LPIN1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11689037	0.89[ASN][1000 genomes]
rs11689220	0.89[ASN][1000 genomes]
rs4669766	0.89[ASN][1000 genomes]
rs6708777	0.89[ASN][1000 genomes]
rs6742234	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11810600-11817000	Weak transcription	Right Ventricle	heart
2	chr2:11815000-11817600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:11815400-11817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11816000-11817000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:11816000-11817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:11816000-11817000	Enhancers	NH-A	brain
7	chr2:11816000-11817200	Enhancers	HUVEC	blood vessel
8	chr2:11816000-11818000	Bivalent Enhancer	HepG2	liver
9	chr2:11816000-11818200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:11816400-11818000	Bivalent Enhancer	NHLF	lung
11	chr2:11816400-11818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11816400-11823200	Enhancers	Ovary	ovary
13	chr2:11816600-11817000	Enhancers	Brain Substantia Nigra	brain
14	chr2:11816600-11817200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:11816600-11817600	Enhancers	Psoas Muscle	Psoas
16	chr2:11816600-11819200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:11816800-11817000	Bivalent Enhancer	Brain Anterior Caudate	brain
18	chr2:11816800-11817400	Enhancers	Hela-S3	cervix
19	chr2:11816800-11817600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr2:11816800-11818000	Enhancers	Left Ventricle	heart
21	chr2:11816800-11818800	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links