Variant report

Variant	rs10180254
Chromosome Location	chr2:48375046-48375047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48370722..48375338-chr2:48376531..48380456,5	K562	blood:
2	chr2:48373325..48375853-chr2:48381099..48383887,3	K562	blood:
3	chr2:48372617..48375586-chr2:48381914..48383881,2	K562	blood:
4	chr2:48338775..48341219-chr2:48373264..48375327,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10164456	1.00[AMR][1000 genomes]
rs10168301	1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10170181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10171243	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180159	1.00[AMR][1000 genomes]
rs10186155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10187019	1.00[AMR][1000 genomes]
rs10187502	1.00[AMR][1000 genomes]
rs10192404	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	1.00[AMR][1000 genomes]
rs10206551	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10208042	1.00[AMR][1000 genomes]
rs10209432	1.00[AMR][1000 genomes]
rs13387285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387357	1.00[AMR][1000 genomes]
rs13390201	1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	1.00[AMR][1000 genomes]
rs13397110	1.00[AMR][1000 genomes]
rs13397541	1.00[AMR][1000 genomes]
rs13404135	0.91[AFR][1000 genomes]
rs13408320	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13419687	1.00[AMR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424841	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430424	1.00[AMR][1000 genomes]
rs7340280	1.00[AMR][1000 genomes]
rs7355330	1.00[AMR][1000 genomes]
rs7355518	1.00[AMR][1000 genomes]
rs9653522	1.00[AMR][1000 genomes]
rs9653523	1.00[AMR][1000 genomes]
rs9653524	1.00[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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48373400-48375600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:48373400-48376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:48373600-48375200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:48373600-48376000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:48373600-48376200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:48374400-48376000	Weak transcription	K562	blood
7	chr2:48374600-48375600	Enhancers	Liver	Liver
8	chr2:48374600-48376000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:48375000-48375200	Enhancers	Brain Substantia Nigra	brain
10	chr2:48375000-48375200	Enhancers	Dnd41	blood

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