Variant report

Variant	rs3754819
Chromosome Location	chr2:209013586-209013587
allele	C/T
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	RAD21	chr2:209013545-209013872	Hela-S3	cervix:	n/a	n/a
2	ZNF143	chr2:209013569-209013865	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:209013496-209013881	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr2:209013513-209013970	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:209013501-209013870	HepG2	liver:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
6	CTCF	chr2:209013467-209014027	SK-N-SH	brain:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
7	RAD21	chr2:209013519-209013934	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:209013496-209013936	MCF-7	breast:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
9	RAD21	chr2:209013526-209013861	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:209013580-209013730	HAc	cerebellar:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
11	CTCF	chr2:209013540-209013690	HCM	heart:	n/a	n/a
12	SMC3	chr2:209013581-209013886	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:209013523-209013861	H1-hESC	embryonic stem cell:	n/a	chr2:209013719-209013728 chr2:209013713-209013731 chr2:209013708-209013729
14	RAD21	chr2:209013453-209013961	MCF-7	breast:	n/a	n/a
15	RAD21	chr2:209013487-209013847	HepG2	liver:	n/a	n/a
16	RAD21	chr2:209013426-209013860	HCT-116	colon:	n/a	n/a
17	CTCF	chr2:209013580-209013730	HFF	foreskin:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
18	CTCF	chr2:209013580-209013730	HEK293	kidney:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
19	CTCF	chr2:209013580-209013730	WERI-Rb-1	eye:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
20	RAD21	chr2:209013545-209013834	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:209013580-209013730	HFF-Myc	foreskin:	n/a	chr2:209013719-209013728 chr2:209013708-209013729
22	RAD21	chr2:209013551-209013889	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr2:209013549-209013877	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209009911..209012697-chr2:209012960..209014950,2	K562	blood:
2	chr2:208966420..208967322-chr2:209013248..209014210,3	MCF-7	breast:
3	chr2:208966612..208967170-chr2:209013283..209013824,2	MCF-7	breast:

Variant related genes	Relation type
CRYGB	TF binding region
ENSG00000182187	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10804166	0.89[CHB][hapmap]
rs12621700	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs1374208	0.89[CHB][hapmap]
rs4292037	0.89[CHB][hapmap]
rs6729461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564942	0.88[CHB][hapmap]
rs7589531	0.89[CHB][hapmap]
rs796273	0.82[AMR][1000 genomes]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209012800-209014400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:209013000-209020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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