Variant report

Variant	rs4240317
Chromosome Location	chr4:119034558-119034559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10008049	0.98[ASN][1000 genomes]
rs10014096	0.97[ASN][1000 genomes]
rs10015232	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10016285	0.98[ASN][1000 genomes]
rs10020473	0.93[ASN][1000 genomes]
rs10021128	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10021781	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10023699	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10026541	0.98[ASN][1000 genomes]
rs10027013	0.89[ASN][1000 genomes]
rs10027893	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10033308	0.94[ASN][1000 genomes]
rs10033412	1.00[ASN][1000 genomes]
rs10440400	0.98[ASN][1000 genomes]
rs11098422	0.93[ASN][1000 genomes]
rs11098424	0.97[ASN][1000 genomes]
rs11098425	0.97[ASN][1000 genomes]
rs11098427	0.98[ASN][1000 genomes]
rs11098428	0.98[ASN][1000 genomes]
rs11722962	0.93[ASN][1000 genomes]
rs11728724	0.97[ASN][1000 genomes]
rs11730541	0.98[ASN][1000 genomes]
rs11733562	0.93[ASN][1000 genomes]
rs11736688	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11937777	1.00[ASN][1000 genomes]
rs11947071	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12499751	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12505156	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12508017	1.00[ASN][1000 genomes]
rs12711064	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13104129	0.93[ASN][1000 genomes]
rs13111697	0.98[ASN][1000 genomes]
rs13114621	1.00[ASN][1000 genomes]
rs13114895	1.00[ASN][1000 genomes]
rs13125397	0.86[ASN][1000 genomes]
rs13126882	0.98[ASN][1000 genomes]
rs13127321	0.98[ASN][1000 genomes]
rs13134901	0.98[ASN][1000 genomes]
rs13135646	0.91[ASN][1000 genomes]
rs13139875	0.93[ASN][1000 genomes]
rs1319938	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994384	0.93[ASN][1000 genomes]
rs2049362	0.93[ASN][1000 genomes]
rs2140475	0.91[ASN][1000 genomes]
rs2389510	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389511	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389512	0.93[ASN][1000 genomes]
rs2389513	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389514	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389515	0.97[ASN][1000 genomes]
rs2389516	0.97[ASN][1000 genomes]
rs2389517	0.97[ASN][1000 genomes]
rs2389518	0.97[ASN][1000 genomes]
rs2389519	0.97[ASN][1000 genomes]
rs2389520	0.98[ASN][1000 genomes]
rs2389521	0.96[ASN][1000 genomes]
rs2389522	0.98[ASN][1000 genomes]
rs2389523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2389524	0.98[ASN][1000 genomes]
rs2389525	1.00[ASN][1000 genomes]
rs2389526	1.00[ASN][1000 genomes]
rs2389527	1.00[ASN][1000 genomes]
rs2389620	0.80[ASN][1000 genomes]
rs2892787	0.93[ASN][1000 genomes]
rs2892788	0.98[ASN][1000 genomes]
rs2892789	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2892790	0.98[ASN][1000 genomes]
rs2892791	1.00[ASN][1000 genomes]
rs2892799	0.92[ASN][1000 genomes]
rs4131600	0.98[ASN][1000 genomes]
rs4240316	1.00[ASN][1000 genomes]
rs4240318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280816	1.00[ASN][1000 genomes]
rs4362895	0.82[ASN][1000 genomes]
rs4397073	0.98[ASN][1000 genomes]
rs4437319	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4452509	1.00[ASN][1000 genomes]
rs4546313	0.88[ASN][1000 genomes]
rs4558930	0.91[ASN][1000 genomes]
rs4566725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576085	1.00[ASN][1000 genomes]
rs4616829	1.00[ASN][1000 genomes]
rs4833560	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4833561	0.98[ASN][1000 genomes]
rs4833563	0.98[ASN][1000 genomes]
rs4833566	0.93[ASN][1000 genomes]
rs4833567	0.88[ASN][1000 genomes]
rs4834656	0.93[ASN][1000 genomes]
rs4834657	1.00[ASN][1000 genomes]
rs4834658	0.87[ASN][1000 genomes]
rs4834660	0.98[ASN][1000 genomes]
rs4834661	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4834664	0.98[ASN][1000 genomes]
rs4834665	0.98[ASN][1000 genomes]
rs4834666	0.94[ASN][1000 genomes]
rs581739	0.87[ASN][1000 genomes]
rs582448	0.86[ASN][1000 genomes]
rs586073	0.87[ASN][1000 genomes]
rs586224	0.87[ASN][1000 genomes]
rs593966	0.87[ASN][1000 genomes]
rs597881	0.87[ASN][1000 genomes]
rs607961	0.88[ASN][1000 genomes]
rs608228	0.86[ASN][1000 genomes]
rs610222	0.85[ASN][1000 genomes]
rs613083	0.87[ASN][1000 genomes]
rs613443	0.87[ASN][1000 genomes]
rs615165	0.81[ASN][1000 genomes]
rs615837	0.85[ASN][1000 genomes]
rs617140	0.86[ASN][1000 genomes]
rs62328865	0.87[ASN][1000 genomes]
rs62328871	0.86[ASN][1000 genomes]
rs625546	0.86[ASN][1000 genomes]
rs627249	0.86[ASN][1000 genomes]
rs641962	0.87[ASN][1000 genomes]
rs644797	0.82[ASN][1000 genomes]
rs6534082	0.98[ASN][1000 genomes]
rs662086	0.87[ASN][1000 genomes]
rs674514	0.86[ASN][1000 genomes]
rs678177	0.88[ASN][1000 genomes]
rs6820061	1.00[ASN][1000 genomes]
rs6820108	0.97[ASN][1000 genomes]
rs6823125	0.98[ASN][1000 genomes]
rs6823295	0.98[ASN][1000 genomes]
rs6825105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828552	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6837896	0.93[ASN][1000 genomes]
rs6842393	0.96[ASN][1000 genomes]
rs6842557	0.91[AMR][1000 genomes]
rs6842719	0.83[ASN][1000 genomes]
rs6848037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851494	0.97[ASN][1000 genomes]
rs6857041	0.98[ASN][1000 genomes]
rs6857232	0.98[ASN][1000 genomes]
rs705838	0.85[ASN][1000 genomes]
rs705841	0.83[ASN][1000 genomes]
rs7435948	0.98[ASN][1000 genomes]
rs7439663	1.00[ASN][1000 genomes]
rs7655439	0.98[ASN][1000 genomes]
rs7655519	0.98[ASN][1000 genomes]
rs7671232	1.00[ASN][1000 genomes]
rs7671359	1.00[ASN][1000 genomes]
rs7671434	0.98[ASN][1000 genomes]
rs7671515	1.00[ASN][1000 genomes]
rs7671562	1.00[ASN][1000 genomes]
rs7677274	0.93[ASN][1000 genomes]
rs7679658	1.00[ASN][1000 genomes]
rs7681830	0.97[ASN][1000 genomes]
rs7685325	0.98[ASN][1000 genomes]
rs7686670	0.95[ASN][1000 genomes]
rs7695706	1.00[ASN][1000 genomes]
rs7699653	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs788647	0.85[ASN][1000 genomes]
rs788650	0.85[ASN][1000 genomes]
rs788651	0.85[ASN][1000 genomes]
rs788655	0.85[ASN][1000 genomes]
rs788656	0.82[ASN][1000 genomes]
rs788658	0.83[ASN][1000 genomes]
rs788661	0.86[ASN][1000 genomes]
rs788662	0.87[ASN][1000 genomes]
rs788668	0.86[ASN][1000 genomes]
rs9307452	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9637622	1.00[ASN][1000 genomes]
rs9637623	1.00[ASN][1000 genomes]
rs9790637	1.00[ASN][1000 genomes]
rs9995675	0.98[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119033200-119034600	Enhancers	HUVEC	blood vessel
2	chr4:119033400-119034800	Genic enhancers	Dnd41	blood
3	chr4:119034200-119035000	Active TSS	Primary T cells from cord blood	blood
4	chr4:119034400-119034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:119034400-119034800	Active TSS	Duodenum Mucosa	Duodenum
6	chr4:119034400-119034800	Active TSS	GM12878-XiMat	blood
7	chr4:119034400-119034800	Active TSS	Monocytes-CD14+_RO01746	blood

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