Variant report

Variant	rs7422157
Chromosome Location	chr2:11816642-11816643
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	USF1	chr2:11816472-11816748	HepG2	liver:	n/a	n/a
2	USF1	chr2:11816500-11816691	HepG2	liver:	n/a	n/a
3	CTCF	chr2:11816600-11817113	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
4	MAX	chr2:11816069-11816952	Hela-S3	cervix:	n/a	chr2:11816318-11816325
5	RAD21	chr2:11816640-11817119	MCF-7	breast:	n/a	chr2:11817013-11817027
6	FOSL2	chr2:11816105-11816657	HepG2	liver:	n/a	chr2:11816383-11816391
7	TFAP2C	chr2:11816438-11816821	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr2:11816641-11817079	K562	blood:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
9	JUND	chr2:11816164-11816716	Hela-S3	cervix:	n/a	chr2:11816401-11816412 chr2:11816383-11816391
10	MAX	chr2:11816055-11816776	HepG2	liver:	n/a	chr2:11816318-11816325
11	CHD2	chr2:11816297-11816751	Hela-S3	cervix:	n/a	n/a
12	RFX5	chr2:11816130-11816715	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:11816522-11817084	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
14	CEBPB	chr2:11816162-11816878	Hela-S3	cervix:	n/a	n/a
15	MAX	chr2:11816110-11816756	Hela-S3	cervix:	n/a	chr2:11816318-11816325
16	USF2	chr2:11816128-11816807	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr2:11816231-11816987	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:11816339-11817010	A549	lung:	n/a	n/a
19	TCF7L2	chr2:11816100-11816908	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr2:11816111-11816835	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr2:11816262-11816956	Hela-S3	cervix:	n/a	n/a
22	FOXA1	chr2:11816217-11816678	HepG2	liver:	n/a	n/a
23	TBP	chr2:11816306-11816876	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr2:11816575-11817106	MCF-7	breast:	n/a	chr2:11817013-11817027
25	BRCA1	chr2:11816206-11816757	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr2:11816520-11816670	WERI-Rb-1	eye:	n/a	n/a
27	MXI1	chr2:11816164-11816693	HepG2	liver:	n/a	n/a

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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
6	esv3446684	chr2:11816425-11816737	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11810600-11817000	Weak transcription	Right Ventricle	heart
2	chr2:11814800-11816800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:11815000-11817600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:11815400-11817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11816000-11816800	Flanking Active TSS	Hela-S3	cervix
6	chr2:11816000-11817000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:11816000-11817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:11816000-11817000	Enhancers	NH-A	brain
9	chr2:11816000-11817200	Enhancers	HUVEC	blood vessel
10	chr2:11816000-11818000	Bivalent Enhancer	HepG2	liver
11	chr2:11816000-11818200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:11816400-11818000	Bivalent Enhancer	NHLF	lung
13	chr2:11816400-11818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:11816400-11823200	Enhancers	Ovary	ovary
15	chr2:11816600-11817000	Enhancers	Brain Substantia Nigra	brain
16	chr2:11816600-11817200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:11816600-11817600	Enhancers	Psoas Muscle	Psoas
18	chr2:11816600-11819200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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