Variant report

Variant	rs1046976
Chromosome Location	chr2:234255548-234255549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234253774..234256883-chr2:234262038..234267744,5	K562	blood:

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10929178	1.00[CHB][hapmap]
rs11675254	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11675531	0.86[EUR][1000 genomes]
rs11675858	1.00[CHB][hapmap]
rs11679008	0.86[EUR][1000 genomes]
rs11686188	1.00[CHB][hapmap]
rs11694406	1.00[CHB][hapmap]
rs13384918	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420688	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754595	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs3796090	1.00[CHB][hapmap]
rs3796092	1.00[CHB][hapmap]
rs3820744	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs3828307	1.00[CHB][hapmap];0.80[GIH][hapmap]
rs55684040	0.86[EUR][1000 genomes]
rs55693723	0.86[EUR][1000 genomes]
rs55804614	0.86[EUR][1000 genomes]
rs55893802	0.83[EUR][1000 genomes]
rs56082182	0.86[EUR][1000 genomes]
rs56405280	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58280122	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704644	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6746234	1.00[CHB][hapmap]
rs6753242	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs72978363	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72978374	0.86[EUR][1000 genomes]
rs72978375	0.86[EUR][1000 genomes]
rs72980318	0.84[EUR][1000 genomes]
rs7573866	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs7587876	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7598771	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1046976	FBXO36	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234244600-234257800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:234247600-234257400	Weak transcription	Spleen	Spleen
3	chr2:234248400-234256600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:234249400-234257000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:234249600-234256600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:234251600-234255600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:234253000-234255800	Enhancers	HepG2	liver
8	chr2:234255000-234255600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:234255000-234256000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:234255000-234257800	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:234255000-234260000	Enhancers	Liver	Liver
12	chr2:234255200-234256000	Enhancers	Brain Angular Gyrus	brain
13	chr2:234255400-234255600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr2:234255400-234256000	Enhancers	K562	blood
15	chr2:234255400-234256400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:234255400-234257600	Enhancers	Brain Anterior Caudate	brain

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