Variant report

Variant	rs13389698
Chromosome Location	chr2:36579992-36579993
allele	C/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	STAT3	chr2:36579845-36580345	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr2:36579016-36580163	HepG2	liver:	n/a	chr2:36579351-36579370
3	SMC3	chr2:36579942-36580253	Hela-S3	cervix:	n/a	n/a
4	FOS	chr2:36579761-36580354	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:36579951-36580143	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr2:36579903-36580237	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr2:36579724-36580402	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr2:36579960-36580110	HCT-116	colon:	n/a	n/a
9	FOS	chr2:36579846-36580301	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr2:36579878-36580241	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:36579920-36580070	NHEK	skin:	n/a	n/a
12	RAD21	chr2:36579948-36580186	SK-N-SH_RA	brain:	n/a	n/a
13	BACH1	chr2:36579889-36580104	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:36579782-36580329	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr2:36579940-36580090	A549	lung:	n/a	n/a
16	CTCF	chr2:36579940-36580230	HRPEpiC	eye:	n/a	n/a
17	POLR2A	chr2:36579981-36580175	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr2:36579900-36580050	HCM	heart:	n/a	n/a
19	TCF12	chr2:36579088-36580884	SK-N-SH	brain:	n/a	n/a
20	CEBPB	chr2:36579793-36580249	IMR90	lung:	n/a	n/a
21	MAFK	chr2:36579979-36580119	HepG2	liver:	n/a	n/a
22	FOS	chr2:36579849-36580290	MCF10A-Er-Src	breast:	n/a	n/a
23	RAD21	chr2:36578763-36580558	SK-N-SH	brain:	n/a	chr2:36579351-36579370
24	EP300	chr2:36579945-36580239	HepG2	liver:	n/a	chr2:36580209-36580223
25	SMC3	chr2:36578845-36580736	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr2:36579960-36580110	RPTEC	kidney:	n/a	n/a
27	MYC	chr2:36579951-36580332	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr2:36579980-36580130	HRE	kidney:	n/a	n/a
29	RAD21	chr2:36579812-36580184	SK-N-SH_RA	brain:	n/a	n/a
30	TCF7L2	chr2:36579804-36580211	PANC-1	pancreas:	n/a	n/a
31	CTCF	chr2:36579912-36580249	IMR90	lung:	n/a	n/a
32	POLR2A	chr2:36579992-36580037	ProgFib	skin:	n/a	n/a
33	CEBPB	chr2:36579919-36580236	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:36579980-36580130	HCPEpiC	choroid plexus:	n/a	n/a
35	ARID3A	chr2:36579092-36580173	HepG2	liver:	n/a	n/a
36	STAT3	chr2:36579884-36580357	MCF10A-Er-Src	breast:	n/a	n/a
37	CEBPB	chr2:36579901-36580101	HepG2	liver:	n/a	n/a
38	FOS	chr2:36579901-36580237	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr2:36579980-36580130	HMEC	breast:	n/a	n/a
40	STAT3	chr2:36579905-36580313	MCF10A-Er-Src	breast:	n/a	n/a
41	CTCF	chr2:36579980-36580130	Caco-2	colon:	n/a	n/a
42	CTCF	chr2:36579920-36580070	NHLF	lung:	n/a	n/a
43	CEBPB	chr2:36579804-36580211	A549	lung:	n/a	n/a
44	CTCF	chr2:36578396-36580736	A549	lung:	n/a	chr2:36579350-36579368 chr2:36580549-36580557 chr2:36579351-36579367 chr2:36579352-36579373
45	CTCF	chr2:36579980-36580130	HPAF	blood vessel:	n/a	n/a
46	POLR2A	chr2:36579794-36580742	PANC-1	pancreas:	n/a	n/a
47	CTCF	chr2:36579920-36580070	GM12875	blood:	n/a	n/a
48	CTCF	chr2:36579960-36580110	GM12873	blood:	n/a	n/a
49	SMC3	chr2:36578979-36579992	HepG2	liver:	n/a	n/a
50	E2F4	chr2:36579950-36580213	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36579541..36582234-chr2:36891147..36893577,3	MCF-7	breast:
2	chr2:36579431..36580979-chr2:36581786..36583464,2	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13392090	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13405945	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2270329	0.87[ASN][1000 genomes]
rs3770950	0.87[ASN][1000 genomes]
rs3770953	0.87[ASN][1000 genomes]
rs4670544	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36577200-36580800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:36578000-36581200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:36578200-36581200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:36578200-36581200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:36578400-36581200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:36578600-36581000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:36578800-36581200	Enhancers	HMEC	breast
8	chr2:36578800-36581400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:36578800-36581400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:36578800-36581400	Enhancers	NHLF	lung
11	chr2:36578800-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:36579000-36580200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:36579000-36580600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:36579000-36581600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:36579000-36581600	Enhancers	Adipose Nuclei	Adipose
16	chr2:36579000-36581600	Enhancers	Hela-S3	cervix
17	chr2:36579000-36581800	Enhancers	Fetal Heart	heart
18	chr2:36579000-36582000	Enhancers	Stomach Mucosa	stomach
19	chr2:36579200-36581400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:36579200-36582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:36579400-36580600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:36579400-36581000	Enhancers	HSMM	muscle
23	chr2:36579600-36580000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:36579600-36580000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:36579600-36580000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:36579600-36580000	Flanking Active TSS	NHEK	skin
27	chr2:36579600-36580200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:36579600-36580400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:36579600-36580600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:36579600-36580600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:36579600-36580600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:36579600-36580600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:36579600-36580600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:36579600-36580600	Enhancers	NH-A	brain
35	chr2:36579600-36580800	Flanking Active TSS	A549	lung
36	chr2:36579600-36581200	Enhancers	NHDF-Ad	bronchial
37	chr2:36579600-36581400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:36579600-36581400	Enhancers	Brain Anterior Caudate	brain
39	chr2:36579600-36581600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:36579600-36581600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:36579600-36581600	Enhancers	Brain Substantia Nigra	brain
42	chr2:36579600-36581600	Enhancers	Fetal Kidney	kidney
43	chr2:36579600-36582000	Enhancers	Primary B cells from cord blood	blood
44	chr2:36579800-36580000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:36579800-36580200	Flanking Active TSS	HepG2	liver
46	chr2:36579800-36580400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:36579800-36580600	Flanking Active TSS	Osteobl	bone
48	chr2:36579800-36580800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:36579800-36580800	Enhancers	GM12878-XiMat	blood
50	chr2:36579800-36580800	Flanking Active TSS	HUVEC	blood vessel

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