Variant report

Variant	rs4430311
Chromosome Location	chr1:244015993-244015994
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	chr1:244015498..244018201-chr1:244020361..244022074,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10157763	0.91[CHB][hapmap]
rs10158245	0.95[CHB][hapmap]
rs10927056	0.91[CHB][hapmap]
rs10927060	0.91[CHB][hapmap]
rs10927075	0.91[CHB][hapmap]
rs10927081	0.91[CHB][hapmap]
rs11579649	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11586029	0.86[CHB][hapmap]
rs11589907	0.91[CHB][hapmap]
rs12117580	0.95[CHB][hapmap]
rs12144546	0.86[CHB][hapmap]
rs12691548	0.91[CHB][hapmap]
rs12753750	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1379700	0.81[CHB][hapmap]
rs1486475	0.86[CHB][hapmap]
rs1531244	0.91[CHB][hapmap]
rs1973284	0.91[CHB][hapmap]
rs2034915	0.86[CHB][hapmap]
rs2345994	0.91[CHB][hapmap]
rs2953328	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2953330	0.82[ASN][1000 genomes]
rs2953331	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3008657	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3008658	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3008659	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008660	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4518884	0.86[CHB][hapmap]
rs4590656	0.91[CHB][hapmap]
rs4658588	0.91[CHB][hapmap]
rs6429435	0.91[CHB][hapmap]
rs6672195	0.91[CHB][hapmap]
rs7548254	0.86[CHB][hapmap]
rs897959	0.86[CHB][hapmap]
rs971285	0.81[CHB][hapmap]

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	nsv1012407	chr1:243381194-244325879	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv534062	chr1:243468053-244182968	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522102	chr1:243821364-244017365	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007035	chr1:243831018-244043589	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv833104	chr1:243942748-244092298	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1013082	chr1:243946161-244681680	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Post-traumatic stress disorder (asjusted for relatedness)	23726511	GWAS catalog

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:244015000-244019000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:244015000-244019000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:244015200-244019000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:244015400-244016200	Enhancers	Fetal Brain Female	brain
5	chr1:244015400-244016600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:244015400-244018800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:244015400-244019000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:244015400-244019000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:244015800-244016200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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