Variant report

Variant	rs10050696
Chromosome Location	chr5:60328265-60328266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10035893	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043790	0.87[AMR][1000 genomes]
rs10044183	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10046059	1.00[AMR][1000 genomes]
rs10051150	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056202	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056513	1.00[AMR][1000 genomes]
rs10058726	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064292	0.87[AMR][1000 genomes]
rs10067476	0.87[AMR][1000 genomes]
rs10069623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10071845	0.87[AMR][1000 genomes]
rs10077508	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471265	0.85[AMR][1000 genomes]
rs10471504	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110162	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12696977	0.87[AMR][1000 genomes]
rs13353957	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13355940	0.87[AMR][1000 genomes]
rs13356787	0.87[AMR][1000 genomes]
rs13360962	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13362092	0.87[AMR][1000 genomes]
rs2045678	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161199	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28411035	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507971	0.87[AMR][1000 genomes]
rs28534860	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582880	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28781684	0.87[AMR][1000 genomes]
rs28816681	1.00[AMR][1000 genomes]
rs28882716	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28888995	0.85[AMR][1000 genomes]
rs4647029	0.87[AMR][1000 genomes]
rs4647036	0.87[AMR][1000 genomes]
rs4647061	0.87[AMR][1000 genomes]
rs4647079	1.00[AMR][1000 genomes]
rs4647086	0.87[AMR][1000 genomes]
rs4647097	0.87[AMR][1000 genomes]
rs4647127	0.87[AMR][1000 genomes]
rs4647133	0.87[AMR][1000 genomes]
rs4647144	0.87[AMR][1000 genomes]
rs4647149	1.00[AMR][1000 genomes]
rs4647157	1.00[AMR][1000 genomes]
rs56791802	0.87[AMR][1000 genomes]
rs57818831	0.87[AMR][1000 genomes]
rs58104554	1.00[AMR][1000 genomes]
rs58495922	0.87[AMR][1000 genomes]
rs59030859	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59158697	0.85[AMR][1000 genomes]
rs6864508	0.85[AMR][1000 genomes]
rs6887938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6894736	1.00[AMR][1000 genomes]
rs73095990	0.87[AMR][1000 genomes]
rs73095991	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095993	0.87[AMR][1000 genomes]
rs73099808	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099809	1.00[AMR][1000 genomes]
rs73099811	1.00[AMR][1000 genomes]
rs73112244	0.87[AMR][1000 genomes]
rs73112254	1.00[AMR][1000 genomes]
rs73114340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704436	0.87[AMR][1000 genomes]
rs7716539	1.00[AMR][1000 genomes]
rs7720240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728655	0.87[AMR][1000 genomes]
rs7731888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7734656	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735610	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735913	0.87[AMR][1000 genomes]
rs9291697	0.85[AMR][1000 genomes]
rs9291698	1.00[AMR][1000 genomes]
rs9291699	0.87[AMR][1000 genomes]
rs9291703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9968618	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518695	chr5:60266875-60329624	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:60326000-60332600	Weak transcription	Ovary	ovary
4	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
5	chr5:60326200-60334200	Weak transcription	Fetal Brain Male	brain
6	chr5:60326200-60339400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:60326800-60332000	Weak transcription	Fetal Brain Female	brain

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