Variant report

Variant	rs2205734
Chromosome Location	chr6:114771644-114771645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10080647	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1008682	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10155761	0.80[ASN][1000 genomes]
rs1033885	0.85[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11153481	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968668	0.81[JPT][hapmap]
rs12194487	0.93[ASN][1000 genomes]
rs12200547	0.84[ASN][1000 genomes]
rs1324441	0.85[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1324446	0.97[ASN][1000 genomes]
rs1324447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1337330	0.97[ASN][1000 genomes]
rs1337335	0.81[ASN][1000 genomes]
rs1337336	0.83[ASN][1000 genomes]
rs1359320	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1408452	0.88[ASW][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1408453	0.88[ASW][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1408454	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1924642	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2224692	0.85[JPT][hapmap]
rs2281012	0.81[JPT][hapmap]
rs2349471	0.84[AMR][1000 genomes]
rs4373385	0.82[ASN][1000 genomes]
rs4945515	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4945998	0.89[ASN][1000 genomes]
rs4946001	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4946003	0.82[JPT][hapmap]
rs6568838	0.94[ASN][1000 genomes]
rs6568839	0.97[ASN][1000 genomes]
rs6902333	0.94[ASN][1000 genomes]
rs6902384	0.94[ASN][1000 genomes]
rs6919491	0.85[ASN][1000 genomes]
rs7739299	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7754407	0.97[ASN][1000 genomes]
rs9320491	0.85[ASN][1000 genomes]
rs9320493	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9374461	0.94[ASN][1000 genomes]
rs9374463	0.97[ASN][1000 genomes]
rs9387211	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9488390	0.81[ASN][1000 genomes]
rs9488391	0.85[ASN][1000 genomes]
rs9488397	0.83[ASN][1000 genomes]
rs9488404	0.83[JPT][hapmap]
rs9688943	0.83[JPT][hapmap]
rs969877	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3692910	chr6:114597419-115480580	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv528128	chr6:114597657-115471129	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv818451	chr6:114597657-115471129	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv428494	chr6:114666307-114774841	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2758074	chr6:114666308-115526957	Enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1030191	chr6:114679497-115228028	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv538424	chr6:114679497-115228028	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1025817	chr6:114715204-115006108	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2205734	MARCKS	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114762600-114773800	Weak transcription	Psoas Muscle	Psoas
2	chr6:114769200-114772200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:114771200-114773800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:114771200-114783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:114771400-114776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114771400-114778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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