Variant report

Variant	rs61689372
Chromosome Location	chr3:49909442-49909443
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	BHLHE40	chr3:49908952-49909474	HepG2	liver:	n/a	chr3:49909036-49909052
2	POLR2A	chr3:49909404-49910004	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr3:49908862-49909848	SK-N-SH	brain:	n/a	n/a
4	MAX	chr3:49908898-49909498	ECC-1	luminal epithelium:	n/a	chr3:49909105-49909115 chr3:49909105-49909114 chr3:49909104-49909115 chr3:49909104-49909115 chr3:49909106-49909113 chr3:49909104-49909114 chr3:49909105-49909114 chr3:49909104-49909115 chr3:49909103-49909116 chr3:49909103-49909118

No.	Distal block	Cell Line	Cell type
1	chr3:49908054..49910878-chr3:49916403..49919498,3	K562	blood:
2	chr3:49908717..49910264-chr3:49922246..49924394,2	MCF-7	breast:
3	chr3:49894189..49896710-chr3:49908532..49911054,2	K562	blood:
4	chr3:49840589..49842616-chr3:49908973..49910773,2	K562	blood:

Variant related genes	Relation type
CAMKV	TF binding region
ENSG00000185614	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1110295	1.00[AMR][1000 genomes]
rs17050885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050913	1.00[AMR][1000 genomes]
rs17050922	1.00[AMR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59325781	1.00[AMR][1000 genomes]
rs72936049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936059	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49906600-49910800	Enhancers	Fetal Brain Male	brain
2	chr3:49907600-49910800	Weak transcription	Gastric	stomach
3	chr3:49907800-49909600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:49907800-49911000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:49907800-49911200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:49908000-49910000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:49908000-49911200	Enhancers	Fetal Brain Female	brain
8	chr3:49908000-49913600	Enhancers	Fetal Intestine Large	intestine
9	chr3:49908200-49909600	Enhancers	Brain Hippocampus Middle	brain
10	chr3:49908200-49911600	Enhancers	Brain Anterior Caudate	brain
11	chr3:49908400-49909600	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:49908600-49909600	Enhancers	Brain Germinal Matrix	brain
13	chr3:49908600-49909800	Enhancers	Brain Substantia Nigra	brain
14	chr3:49908600-49911200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:49908600-49911400	Enhancers	Fetal Intestine Small	intestine
16	chr3:49908800-49911000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:49909000-49910000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:49909000-49911000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:49909200-49909600	Bivalent Enhancer	HepG2	liver
20	chr3:49909200-49910600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:49909400-49909600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr3:49909400-49910800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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