Variant report

Variant	rs7696877
Chromosome Location	chr4:120081869-120081870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10031033	0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs1011054	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1033087	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1052633	0.82[CHB][hapmap]
rs11098486	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098489	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098490	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11098491	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11098492	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11098498	0.82[CHB][hapmap]
rs11098499	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs11726229	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11729978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11730138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731008	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732621	0.82[CHB][hapmap]
rs11733239	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11733525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944880	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs12186259	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12508316	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513191	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13113112	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs13120560	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13129661	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs13136593	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13435802	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1459055	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1511018	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1511019	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2036861	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3749591	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4334737	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6822808	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs6837898	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6843509	0.82[CHB][hapmap]
rs6849889	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7659194	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs9993110	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120061400-120083200	Weak transcription	HSMMtube	muscle
2	chr4:120061400-120089200	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:120066800-120087000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:120070800-120083200	Weak transcription	Right Ventricle	heart
5	chr4:120070800-120109200	Weak transcription	Psoas Muscle	Psoas
6	chr4:120071000-120088600	Weak transcription	Right Atrium	heart
7	chr4:120075400-120087000	Weak transcription	Fetal Heart	heart
8	chr4:120077000-120107800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:120077600-120086400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:120079800-120083200	Weak transcription	Left Ventricle	heart
11	chr4:120079800-120114200	Weak transcription	Aorta	Aorta

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