Variant report

Variant	rs2219342
Chromosome Location	chr4:62265623-62265624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1037671	1.00[EUR][1000 genomes]
rs10428284	0.97[ASN][1000 genomes]
rs10428398	0.99[ASN][1000 genomes]
rs10428425	0.97[ASN][1000 genomes]
rs10517536	1.00[EUR][1000 genomes]
rs11131326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13149417	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1350247	1.00[EUR][1000 genomes]
rs1379164	0.90[ASN][1000 genomes]
rs1379167	1.00[EUR][1000 genomes]
rs1456864	0.99[ASN][1000 genomes]
rs1456866	0.99[ASN][1000 genomes]
rs1456867	1.00[EUR][1000 genomes]
rs1456875	1.00[EUR][1000 genomes]
rs1456876	1.00[EUR][1000 genomes]
rs1456877	1.00[EUR][1000 genomes]
rs1456878	1.00[EUR][1000 genomes]
rs1497902	1.00[EUR][1000 genomes]
rs1497904	1.00[EUR][1000 genomes]
rs1531204	1.00[EUR][1000 genomes]
rs17090502	1.00[EUR][1000 genomes]
rs17090511	1.00[EUR][1000 genomes]
rs17090512	1.00[EUR][1000 genomes]
rs17090513	1.00[EUR][1000 genomes]
rs17219787	0.99[ASN][1000 genomes]
rs17219815	0.97[ASN][1000 genomes]
rs17219822	0.84[ASN][1000 genomes]
rs17226200	0.97[ASN][1000 genomes]
rs17291927	0.99[ASN][1000 genomes]
rs17291934	0.99[ASN][1000 genomes]
rs17291940	0.99[ASN][1000 genomes]
rs17291954	0.97[ASN][1000 genomes]
rs17291961	0.97[ASN][1000 genomes]
rs1845582	1.00[EUR][1000 genomes]
rs2061266	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2124795	1.00[EUR][1000 genomes]
rs2124796	1.00[EUR][1000 genomes]
rs2606712	1.00[EUR][1000 genomes]
rs2606714	1.00[EUR][1000 genomes]
rs2606715	1.00[EUR][1000 genomes]
rs2606716	1.00[EUR][1000 genomes]
rs2606717	1.00[EUR][1000 genomes]
rs2606718	1.00[EUR][1000 genomes]
rs2606720	1.00[EUR][1000 genomes]
rs2643035	1.00[EUR][1000 genomes]
rs2643037	1.00[EUR][1000 genomes]
rs2643038	1.00[EUR][1000 genomes]
rs2643039	1.00[EUR][1000 genomes]
rs2643040	1.00[EUR][1000 genomes]
rs335274	1.00[EUR][1000 genomes]
rs335275	1.00[EUR][1000 genomes]
rs335276	1.00[EUR][1000 genomes]
rs335277	1.00[EUR][1000 genomes]
rs335278	1.00[EUR][1000 genomes]
rs335280	1.00[EUR][1000 genomes]
rs335281	1.00[EUR][1000 genomes]
rs335283	1.00[EUR][1000 genomes]
rs335284	1.00[EUR][1000 genomes]
rs335293	1.00[EUR][1000 genomes]
rs335297	1.00[EUR][1000 genomes]
rs335298	1.00[EUR][1000 genomes]
rs335326	1.00[EUR][1000 genomes]
rs335327	1.00[EUR][1000 genomes]
rs335328	1.00[EUR][1000 genomes]
rs335330	1.00[EUR][1000 genomes]
rs335331	1.00[EUR][1000 genomes]
rs335333	1.00[EUR][1000 genomes]
rs335339	1.00[EUR][1000 genomes]
rs335340	1.00[EUR][1000 genomes]
rs335343	1.00[EUR][1000 genomes]
rs335344	1.00[EUR][1000 genomes]
rs335345	1.00[EUR][1000 genomes]
rs335346	1.00[EUR][1000 genomes]
rs335347	1.00[EUR][1000 genomes]
rs335348	1.00[EUR][1000 genomes]
rs4860413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6551626	0.99[ASN][1000 genomes]
rs6551630	1.00[EUR][1000 genomes]
rs6814707	1.00[EUR][1000 genomes]
rs6818561	0.99[ASN][1000 genomes]
rs6823672	1.00[EUR][1000 genomes]
rs6826349	0.99[ASN][1000 genomes]
rs6834543	1.00[EUR][1000 genomes]
rs6835059	0.83[AMR][1000 genomes]
rs6841033	1.00[EUR][1000 genomes]
rs6843210	0.99[ASN][1000 genomes]
rs6843417	0.99[ASN][1000 genomes]
rs6843523	0.99[ASN][1000 genomes]
rs7654021	0.99[ASN][1000 genomes]
rs7655377	1.00[EUR][1000 genomes]
rs7660777	1.00[EUR][1000 genomes]
rs7670645	0.99[ASN][1000 genomes]
rs7672850	0.99[ASN][1000 genomes]
rs7672885	0.99[ASN][1000 genomes]
rs7683174	0.99[ASN][1000 genomes]
rs7683598	1.00[EUR][1000 genomes]
rs7688582	0.99[ASN][1000 genomes]
rs7693587	1.00[EUR][1000 genomes]
rs7693679	1.00[EUR][1000 genomes]
rs7698242	0.99[ASN][1000 genomes]
rs7698624	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7698634	0.99[ASN][1000 genomes]
rs9654273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991586	1.00[EUR][1000 genomes]
rs991587	1.00[EUR][1000 genomes]
rs991588	1.00[EUR][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	nsv879075	chr4:62124531-62354791	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv461376	chr4:62187646-62274626	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv594327	chr4:62187646-62274626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879076	chr4:62251077-62354791	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62251200-62266200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:62254600-62273400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:62255600-62266200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:62258600-62266600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:62259400-62266600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:62260400-62266600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:62261200-62266200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:62262000-62266600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:62263400-62266600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:62263400-62267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:62264200-62266600	Enhancers	Brain Substantia Nigra	brain
12	chr4:62264200-62268000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:62264600-62266200	Weak transcription	Brain Anterior Caudate	brain
14	chr4:62264600-62273200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:62264800-62266400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:62265200-62267800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:62265400-62265800	Enhancers	Brain Angular Gyrus	brain
18	chr4:62265400-62266600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:62265400-62267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:62265600-62267200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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