Variant report

Variant	rs13422439
Chromosome Location	chr2:183411744-183411745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183409611..183411975-chr2:183412414..183414560,2	K562	blood:
2	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10180347	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10497596	1.00[EUR][1000 genomes]
rs11884145	1.00[EUR][1000 genomes]
rs11887150	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11888602	1.00[EUR][1000 genomes]
rs11891405	1.00[EUR][1000 genomes]
rs11891890	1.00[EUR][1000 genomes]
rs11892984	1.00[EUR][1000 genomes]
rs11893859	1.00[EUR][1000 genomes]
rs11897675	1.00[EUR][1000 genomes]
rs11899043	1.00[EUR][1000 genomes]
rs11900878	1.00[EUR][1000 genomes]
rs11902391	1.00[EUR][1000 genomes]
rs11903131	1.00[EUR][1000 genomes]
rs11903253	1.00[EUR][1000 genomes]
rs1405945	1.00[EUR][1000 genomes]
rs16823120	1.00[EUR][1000 genomes]
rs16823144	1.00[EUR][1000 genomes]
rs16823168	1.00[EUR][1000 genomes]
rs16823171	1.00[EUR][1000 genomes]
rs16823184	1.00[EUR][1000 genomes]
rs16823199	1.00[EUR][1000 genomes]
rs16823220	1.00[EUR][1000 genomes]
rs16823249	1.00[EUR][1000 genomes]
rs16823277	1.00[EUR][1000 genomes]
rs16823319	1.00[EUR][1000 genomes]
rs16823398	1.00[EUR][1000 genomes]
rs34384812	1.00[EUR][1000 genomes]
rs34558843	1.00[EUR][1000 genomes]
rs35196240	1.00[EUR][1000 genomes]
rs36105371	1.00[EUR][1000 genomes]
rs4420678	1.00[EUR][1000 genomes]
rs4621137	1.00[EUR][1000 genomes]
rs57267003	1.00[EUR][1000 genomes]
rs57829961	1.00[EUR][1000 genomes]
rs58580997	0.80[AMR][1000 genomes]
rs61069172	1.00[EUR][1000 genomes]
rs6724256	1.00[EUR][1000 genomes]
rs6725460	1.00[EUR][1000 genomes]
rs6731573	1.00[EUR][1000 genomes]
rs6752224	1.00[EUR][1000 genomes]
rs6761101	1.00[EUR][1000 genomes]
rs73042483	1.00[EUR][1000 genomes]
rs73045406	1.00[EUR][1000 genomes]
rs73045415	1.00[EUR][1000 genomes]
rs73045418	1.00[EUR][1000 genomes]
rs73045422	1.00[EUR][1000 genomes]
rs73045434	1.00[EUR][1000 genomes]
rs73048386	1.00[EUR][1000 genomes]
rs73050409	1.00[EUR][1000 genomes]
rs73975018	1.00[EUR][1000 genomes]
rs7576178	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7581210	1.00[EUR][1000 genomes]
rs7601239	1.00[EUR][1000 genomes]
rs825654	1.00[EUR][1000 genomes]
rs991927	1.00[EUR][1000 genomes]
rs994155	1.00[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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183404200-183411800	Weak transcription	Fetal Brain Male	brain
2	chr2:183407400-183413800	Enhancers	HUVEC	blood vessel
3	chr2:183407800-183412800	Weak transcription	Fetal Lung	lung
4	chr2:183407800-183413200	Weak transcription	NHLF	lung
5	chr2:183408000-183412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:183408000-183412800	Weak transcription	Osteobl	bone
7	chr2:183408400-183412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183409200-183413000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:183410200-183412800	Weak transcription	HSMM	muscle
10	chr2:183410200-183413000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:183410200-183413000	Weak transcription	Ovary	ovary
12	chr2:183410600-183412800	Weak transcription	HSMMtube	muscle
13	chr2:183410800-183413400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:183411000-183412800	Weak transcription	Fetal Stomach	stomach
15	chr2:183411000-183413000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:183411200-183413600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:183411600-183412600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:183411600-183416000	Weak transcription	Brain Hippocampus Middle	brain

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