Variant report

Variant	rs62176078
Chromosome Location	chr2:179180443-179180444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:179180159-179180551	K562	blood:	n/a	n/a
2	BACH1	chr2:179180411-179180527	K562	blood:	n/a	n/a
3	GATA3	chr2:179180277-179180562	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr2:179180231-179180550	K562	blood:	n/a	n/a
5	TAL1	chr2:179180183-179180566	K562	blood:	n/a	n/a
6	MAZ	chr2:179180278-179180478	K562	blood:	n/a	n/a
7	GATA2	chr2:179180163-179180607	SH-SY5Y	brain:	n/a	n/a
8	ARID3A	chr2:179180223-179180481	K562	blood:	n/a	n/a
9	KAP1	chr2:179180184-179180934	U2OS	brain:	n/a	n/a
10	GATA2	chr2:179180165-179180584	K562	blood:	n/a	n/a
11	KAP1	chr2:179179853-179180876	HEK293	kidney:	n/a	n/a
12	POLR2A	chr2:179180169-179180530	K562	blood:	n/a	n/a
13	JUND	chr2:179180242-179180526	K562	blood:	n/a	n/a
14	TCF7L2	chr2:179180213-179180728	HEK293	kidney:	n/a	n/a
15	RCOR1	chr2:179180237-179180537	K562	blood:	n/a	n/a
16	TEAD4	chr2:179180126-179180594	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179173279..179175264-chr2:179179066..179181987,2	K562	blood:
2	chr2:179175553..179178378-chr2:179180184..179181905,2	K562	blood:

No data

Variant related genes	Relation type
OSBPL6	TF binding region

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

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

rs_ID	r²[population]
rs10167889	0.81[EUR][1000 genomes]
rs12464806	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12467696	0.81[EUR][1000 genomes]
rs12473890	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13402976	0.84[AMR][1000 genomes]
rs16866272	0.83[AMR][1000 genomes]
rs1992753	0.81[EUR][1000 genomes]
rs334599	0.81[AMR][1000 genomes]
rs4893850	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4894006	0.82[EUR][1000 genomes]
rs4894008	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4894009	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4894012	0.84[EUR][1000 genomes]
rs4894013	0.83[AMR][1000 genomes]
rs62176069	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62176070	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62176071	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62176072	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62176076	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62177257	0.81[EUR][1000 genomes]
rs62179163	0.82[EUR][1000 genomes]
rs62179164	0.82[EUR][1000 genomes]
rs62179167	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6760059	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73032523	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73032568	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7349264	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7559125	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7559527	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7570485	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7599195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9646740	0.82[AMR][1000 genomes]
rs9808049	0.81[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
4	chr2:179171600-179182000	Weak transcription	HSMM	muscle
5	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:179176400-179183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:179179800-179180800	Enhancers	Liver	Liver
8	chr2:179179800-179181000	Enhancers	K562	blood
9	chr2:179180000-179180600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:179180000-179180600	Enhancers	Left Ventricle	heart
11	chr2:179180000-179180600	Enhancers	Psoas Muscle	Psoas
12	chr2:179180000-179180600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:179180400-179180600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:179180400-179183200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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