Variant report

Variant	rs13136948
Chromosome Location	chr4:74806194-74806195
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74803360..74804892-chr4:74805516..74807150,2	K562	blood:
2	chr4:74806189..74808887-chr4:74899171..74901501,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10007249	0.82[ASN][1000 genomes]
rs10017182	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10033521	0.92[EUR][1000 genomes]
rs10938105	0.92[EUR][1000 genomes]
rs11939236	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498174	0.91[EUR][1000 genomes]
rs13112134	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13120504	0.90[EUR][1000 genomes]
rs13122604	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13128887	0.92[EUR][1000 genomes]
rs1435520	0.81[JPT][hapmap]
rs1435521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs149611	0.85[ASN][1000 genomes]
rs1595008	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1595009	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2082822	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2082823	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2115695	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175498	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2367443	0.92[EUR][1000 genomes]
rs2472649	0.83[CEU][hapmap]
rs3114083	0.83[EUR][1000 genomes]
rs352036	0.85[ASN][1000 genomes]
rs353028	0.84[ASN][1000 genomes]
rs353029	0.84[ASN][1000 genomes]
rs353031	0.84[ASN][1000 genomes]
rs353032	0.82[ASN][1000 genomes]
rs353034	0.80[ASN][1000 genomes]
rs353039	0.80[ASN][1000 genomes]
rs353042	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs3906613	0.92[EUR][1000 genomes]
rs4399951	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4694180	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4694654	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694657	0.92[EUR][1000 genomes]
rs4694658	0.92[EUR][1000 genomes]
rs4694659	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4694660	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4694661	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs499141	0.80[ASN][1000 genomes]
rs529312	0.80[ASN][1000 genomes]
rs57274239	0.82[ASN][1000 genomes]
rs585778	0.80[ASN][1000 genomes]
rs629315	0.80[ASN][1000 genomes]
rs6446970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446973	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6810940	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6813021	0.89[EUR][1000 genomes]
rs6819077	0.92[EUR][1000 genomes]
rs6819566	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6822890	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6832583	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7662553	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7666671	0.82[ASN][1000 genomes]
rs7671525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8180167	0.92[EUR][1000 genomes]
rs9291189	0.92[EUR][1000 genomes]
rs938094	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1010272	chr4:74802868-74813081	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv964067	chr4:74803401-74807121	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74803800-74809000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:74806000-74806600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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