Variant report

Variant	rs62148080
Chromosome Location	chr2:100822136-100822137
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	EP300	chr2:100821970-100825396	SK-N-SH	brain:	n/a	chr2:100823751-100823765 chr2:100822832-100822841 chr2:100823096-100823110 chr2:100823491-100823505 chr2:100823084-100823098 chr2:100824035-100824048

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100815576..100818856-chr2:100821193..100824175,3	MCF-7	breast:

Variant related genes	Relation type
LINC01104	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17023655	1.00[AMR][1000 genomes]
rs17023659	1.00[ASN][1000 genomes]
rs17023710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023791	0.87[ASN][1000 genomes]
rs17023801	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023820	0.87[ASN][1000 genomes]
rs17023833	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148083	1.00[ASN][1000 genomes]
rs62148084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148088	1.00[ASN][1000 genomes]
rs62148089	1.00[ASN][1000 genomes]
rs62148090	1.00[ASN][1000 genomes]
rs62148092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149354	1.00[AMR][1000 genomes]
rs62150261	1.00[AMR][1000 genomes]
rs62150270	1.00[AMR][1000 genomes]
rs62150271	1.00[AMR][1000 genomes]
rs62150291	1.00[ASN][1000 genomes]
rs6735369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100815000-100823600	Weak transcription	Fetal Heart	heart
2	chr2:100815600-100823800	Weak transcription	Left Ventricle	heart
3	chr2:100818600-100825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100820200-100825400	Enhancers	Fetal Brain Male	brain
5	chr2:100821000-100823400	Weak transcription	Fetal Brain Female	brain
6	chr2:100821600-100822200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:100821600-100822200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:100821600-100822200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:100821600-100822200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:100821600-100822200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100821600-100822400	Enhancers	Fetal Thymus	thymus
12	chr2:100821600-100822400	Enhancers	Thymus	Thymus
13	chr2:100821800-100822200	Enhancers	Right Atrium	heart
14	chr2:100821800-100822400	Enhancers	Lung	lung
15	chr2:100822000-100825000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:100822000-100826400	Weak transcription	Monocytes-CD14+_RO01746	blood

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