Variant report

Variant	rs4568402
Chromosome Location	chr5:2097011-2097012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:2096243..2097879-chr5:2110923..2112591,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10039392	0.91[ASN][1000 genomes]
rs10039393	0.91[CEU][hapmap];0.82[CHB][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10062706	0.87[ASN][1000 genomes]
rs10066597	0.91[ASN][1000 genomes]
rs10067919	0.91[ASN][1000 genomes]
rs10068634	0.91[ASN][1000 genomes]
rs10076573	1.00[ASN][1000 genomes]
rs12054704	0.85[ASN][1000 genomes]
rs12054740	0.81[ASN][1000 genomes]
rs12055227	0.81[ASN][1000 genomes]
rs4299769	0.99[ASN][1000 genomes]
rs55637118	0.91[ASN][1000 genomes]
rs55637204	0.91[ASN][1000 genomes]
rs55719457	0.91[ASN][1000 genomes]
rs55791921	0.91[ASN][1000 genomes]
rs55920103	0.91[ASN][1000 genomes]
rs56028101	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56130408	0.91[ASN][1000 genomes]
rs56154225	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56173153	0.91[ASN][1000 genomes]
rs56186338	0.91[ASN][1000 genomes]
rs56188011	0.91[ASN][1000 genomes]
rs56277896	0.91[ASN][1000 genomes]
rs56292928	1.00[ASN][1000 genomes]
rs56365450	0.91[ASN][1000 genomes]
rs56408053	0.86[ASN][1000 genomes]
rs56902203	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58739107	0.91[ASN][1000 genomes]
rs59104705	0.91[ASN][1000 genomes]
rs59337987	0.91[ASN][1000 genomes]
rs59685893	0.91[ASN][1000 genomes]
rs60006209	0.91[ASN][1000 genomes]
rs60007658	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60697393	0.91[ASN][1000 genomes]
rs61623125	0.91[ASN][1000 genomes]
rs62329477	0.80[AMR][1000 genomes]
rs6869000	0.91[ASN][1000 genomes]
rs6869329	0.91[ASN][1000 genomes]
rs72708663	0.86[ASN][1000 genomes]
rs72708679	0.91[ASN][1000 genomes]
rs72708681	0.91[ASN][1000 genomes]
rs72708682	0.89[ASN][1000 genomes]
rs72708684	0.91[ASN][1000 genomes]
rs72708689	0.91[ASN][1000 genomes]
rs72708693	0.91[ASN][1000 genomes]
rs72708694	0.91[ASN][1000 genomes]
rs72708697	0.91[ASN][1000 genomes]
rs72708698	0.91[ASN][1000 genomes]
rs72708699	0.91[ASN][1000 genomes]
rs72708702	0.91[ASN][1000 genomes]
rs72710605	1.00[ASN][1000 genomes]
rs72710609	0.80[ASN][1000 genomes]
rs7702195	0.82[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1020211	chr5:2045699-2104887	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4568402	MRPL36	cis	cerebellum	SCAN
rs4568402	TPPP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2095400-2097200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:2097000-2097600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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