Variant report

Variant	rs57108153
Chromosome Location	chr2:11673502-11673503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:11673438-11673715	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:11673311-11673808	HepG2	liver:	n/a	n/a
3	TCF12	chr2:11673382-11673712	HepG2	liver:	n/a	chr2:11673659-11673668
4	EP300	chr2:11673275-11674270	MCF-7	breast:	n/a	chr2:11673970-11673980
5	EP300	chr2:11673221-11673856	HepG2	liver:	n/a	n/a
6	FOXM1	chr2:11673345-11674578	MCF-7	breast:	n/a	n/a
7	HNF4A	chr2:11673421-11673710	HepG2	liver:	n/a	n/a
8	RAD21	chr2:11673317-11673801	HepG2	liver:	n/a	n/a
9	NFIC	chr2:11673162-11673846	HepG2	liver:	n/a	n/a
10	RXRA	chr2:11673321-11673703	HepG2	liver:	n/a	n/a
11	HDAC2	chr2:11673213-11673814	HepG2	liver:	n/a	n/a
12	EP300	chr2:11673265-11673799	HepG2	liver:	n/a	n/a
13	HDAC2	chr2:11673316-11673836	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:11670574-11673676	MCF-7	breast:	n/a	n/a
15	FOXA1	chr2:11673314-11673905	HepG2	liver:	n/a	n/a
16	TCF7L2	chr2:11673334-11674394	MCF-7	breast:	n/a	chr2:11673507-11673521
17	MBD4	chr2:11673288-11673800	HepG2	liver:	n/a	n/a
18	MYBL2	chr2:11673129-11674138	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:11673193-11673968	HepG2	liver:	n/a	n/a
20	ZNF217	chr2:11672296-11673509	MCF-7	breast:	n/a	n/a
21	TCF7L2	chr2:11673301-11673753	HEK293	kidney:	n/a	chr2:11673507-11673521
22	GATA3	chr2:11672241-11674316	MCF-7	breast:	n/a	chr2:11673809-11673817
23	HNF4G	chr2:11673371-11673782	HepG2	liver:	n/a	n/a
24	TEAD4	chr2:11672881-11673822	HepG2	liver:	n/a	n/a
25	TCF7L2	chr2:11673346-11674215	Hela-S3	cervix:	n/a	chr2:11673507-11673521
26	SP1	chr2:11673285-11673728	HepG2	liver:	n/a	n/a
27	MBD4	chr2:11673221-11674135	HepG2	liver:	n/a	n/a
28	RAD21	chr2:11673406-11673733	HepG2	liver:	n/a	n/a
29	MAX	chr2:11673162-11673899	HepG2	liver:	n/a	n/a
30	KAP1	chr2:11673228-11674423	U2OS	brain:	n/a	n/a
31	HNF4A	chr2:11673357-11673688	HepG2	liver:	n/a	n/a
32	FOXA2	chr2:11673323-11674123	HepG2	liver:	n/a	n/a
33	TCF7L2	chr2:11672997-11673762	HepG2	liver:	n/a	chr2:11673507-11673521
34	NFIC	chr2:11673233-11674085	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:11673274-11674250	HepG2	liver:	n/a	n/a
36	FOXA1	chr2:11673271-11673838	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11671718..11674128-chr5:176738557..176740122,2	MCF-7	breast:
2	chr2:11272147..11274930-chr2:11671339..11675156,3	MCF-7	breast:
3	chr1:11968076..11970161-chr2:11672885..11674527,2	MCF-7	breast:
4	chr2:11638381..11639354-chr2:11672110..11673685,53	MCF-7	breast:
5	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:

No data

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000213347	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000228496	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10427206	1.00[EUR][1000 genomes]
rs10520085	1.00[EUR][1000 genomes]
rs16857583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56714132	1.00[EUR][1000 genomes]
rs56805168	1.00[EUR][1000 genomes]
rs57932839	1.00[EUR][1000 genomes]
rs58950938	1.00[EUR][1000 genomes]
rs59489734	1.00[EUR][1000 genomes]
rs59636084	1.00[EUR][1000 genomes]
rs59936690	1.00[EUR][1000 genomes]
rs60215345	1.00[EUR][1000 genomes]
rs61039324	1.00[EUR][1000 genomes]
rs73180151	1.00[EUR][1000 genomes]
rs73187491	1.00[EUR][1000 genomes]
rs73187494	1.00[EUR][1000 genomes]
rs73189350	1.00[EUR][1000 genomes]
rs73189353	1.00[EUR][1000 genomes]
rs73189354	1.00[EUR][1000 genomes]
rs73189377	1.00[EUR][1000 genomes]
rs73915421	1.00[EUR][1000 genomes]
rs73915425	1.00[EUR][1000 genomes]
rs73915426	1.00[EUR][1000 genomes]
rs73915428	1.00[EUR][1000 genomes]
rs73915429	1.00[EUR][1000 genomes]
rs73915430	1.00[EUR][1000 genomes]
rs73915431	1.00[EUR][1000 genomes]
rs73915432	1.00[EUR][1000 genomes]
rs73915433	1.00[EUR][1000 genomes]
rs73915434	1.00[EUR][1000 genomes]
rs73915435	1.00[EUR][1000 genomes]
rs73915443	1.00[EUR][1000 genomes]
rs73917236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11664600-11676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:11667400-11674600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:11669400-11678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:11670400-11675800	Enhancers	HepG2	liver
6	chr2:11671200-11676800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:11671400-11674600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:11671400-11674600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:11671400-11674600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
12	chr2:11671600-11675000	Weak transcription	Psoas Muscle	Psoas
13	chr2:11672200-11674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:11672200-11674600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:11672400-11674000	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:11672400-11674000	Flanking Active TSS	Hela-S3	cervix
17	chr2:11672400-11674400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:11672400-11676800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:11672400-11678200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
22	chr2:11672600-11674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:11672800-11673600	Flanking Active TSS	Ovary	ovary
24	chr2:11672800-11673800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:11672800-11673800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:11672800-11674600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:11672800-11674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:11673000-11673600	Enhancers	Brain Angular Gyrus	brain
30	chr2:11673000-11674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:11673000-11674400	Enhancers	Brain Hippocampus Middle	brain
32	chr2:11673000-11674600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:11673000-11674600	Enhancers	HMEC	breast
34	chr2:11673000-11676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:11673200-11673600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:11673200-11673600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:11673400-11674600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:11673400-11674600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:11673400-11674800	Bivalent Enhancer	NHEK	skin

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