Variant report

Variant	rs13137328
Chromosome Location	chr4:159017115-159017116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:159015350..159017695-chr4:159032159..159035060,3	MCF-7	breast:
2	chr4:159013245..159018298-chr4:159091169..159093561,5	MCF-7	breast:
3	chr4:158999977..159001907-chr4:159015596..159017167,2	MCF-7	breast:
4	chr4:158912571..158916849-chr4:159013907..159018478,8	MCF-7	breast:
5	chr4:159010029..159020346-chr4:159088735..159099117,18	MCF-7	breast:
6	chr4:158912471..158914570-chr4:159016207..159019038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248429	Chromatin interaction
ENSG00000164125	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10021199	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024235	0.94[AMR][1000 genomes]
rs10517685	0.86[ASN][1000 genomes]
rs10517686	0.86[ASN][1000 genomes]
rs13130880	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036992	0.86[ASN][1000 genomes]
rs17036995	0.86[ASN][1000 genomes]
rs17212066	0.86[ASN][1000 genomes]
rs17271385	0.86[ASN][1000 genomes]
rs2594745	0.84[AMR][1000 genomes]
rs2594759	0.90[AMR][1000 genomes]
rs2594760	0.90[AMR][1000 genomes]
rs2594761	0.90[AMR][1000 genomes]
rs2594762	0.90[AMR][1000 genomes]
rs2594764	0.90[AMR][1000 genomes]
rs2594765	0.90[AMR][1000 genomes]
rs2594768	0.90[AMR][1000 genomes]
rs2594770	0.90[AMR][1000 genomes]
rs2725490	0.90[AMR][1000 genomes]
rs2725491	0.90[AMR][1000 genomes]
rs2725492	0.90[AMR][1000 genomes]
rs2725493	0.90[AMR][1000 genomes]
rs2725494	0.90[AMR][1000 genomes]
rs2725495	0.90[AMR][1000 genomes]
rs2725496	0.90[AMR][1000 genomes]
rs2725497	0.90[AMR][1000 genomes]
rs2725498	0.90[AMR][1000 genomes]
rs2725500	0.90[AMR][1000 genomes]
rs2725504	0.90[AMR][1000 genomes]
rs2725505	0.90[AMR][1000 genomes]
rs2725506	0.90[AMR][1000 genomes]
rs2725507	0.90[AMR][1000 genomes]
rs2725508	0.90[AMR][1000 genomes]
rs2725519	0.84[AMR][1000 genomes]
rs28373894	0.82[AMR][1000 genomes]
rs28448481	0.90[AMR][1000 genomes]
rs2881374	0.86[ASN][1000 genomes]
rs4234916	0.94[AMR][1000 genomes]
rs4259109	0.90[AMR][1000 genomes]
rs4349642	0.90[AMR][1000 genomes]
rs4355442	0.90[AMR][1000 genomes]
rs4401497	0.90[AMR][1000 genomes]
rs4404597	0.90[AMR][1000 genomes]
rs4425428	0.90[AMR][1000 genomes]
rs4443327	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447905	0.90[AMR][1000 genomes]
rs4455468	0.90[AMR][1000 genomes]
rs4460049	0.88[AMR][1000 genomes]
rs4484350	0.90[AMR][1000 genomes]
rs4495089	0.90[AMR][1000 genomes]
rs4505875	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4508943	0.94[AMR][1000 genomes]
rs4510503	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519842	0.90[AMR][1000 genomes]
rs4549446	0.90[AMR][1000 genomes]
rs4549447	0.90[AMR][1000 genomes]
rs4571380	0.90[AMR][1000 genomes]
rs4571382	0.90[AMR][1000 genomes]
rs4580697	0.90[AMR][1000 genomes]
rs4608853	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611971	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4615227	0.90[AMR][1000 genomes]
rs4618359	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55800218	0.90[AMR][1000 genomes]
rs58537354	0.90[AMR][1000 genomes]
rs6536289	0.90[AMR][1000 genomes]
rs6536290	0.90[AMR][1000 genomes]
rs6536291	0.90[AMR][1000 genomes]
rs6536294	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815974	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829412	0.88[AMR][1000 genomes]
rs6830333	0.90[AMR][1000 genomes]
rs72689905	0.90[AMR][1000 genomes]
rs72689908	0.90[AMR][1000 genomes]
rs72689912	0.90[AMR][1000 genomes]
rs72691603	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691606	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691610	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72691615	0.86[ASN][1000 genomes]
rs72691620	0.86[ASN][1000 genomes]
rs72691622	0.86[ASN][1000 genomes]
rs72691626	0.86[ASN][1000 genomes]
rs72691627	0.86[ASN][1000 genomes]
rs72691629	0.86[ASN][1000 genomes]
rs72691631	0.86[ASN][1000 genomes]
rs72691632	0.86[ASN][1000 genomes]
rs72691633	0.86[ASN][1000 genomes]
rs72691634	0.86[ASN][1000 genomes]
rs72691636	0.86[ASN][1000 genomes]
rs72691649	0.81[AMR][1000 genomes]
rs72695012	0.90[AMR][1000 genomes]
rs72695013	0.90[AMR][1000 genomes]
rs72695014	0.90[AMR][1000 genomes]
rs72695016	0.90[AMR][1000 genomes]
rs72695017	0.90[AMR][1000 genomes]
rs72695018	0.90[AMR][1000 genomes]
rs72695019	0.90[AMR][1000 genomes]
rs72695020	0.90[AMR][1000 genomes]
rs72695025	0.90[AMR][1000 genomes]
rs72695027	0.90[AMR][1000 genomes]
rs7661831	0.90[AMR][1000 genomes]
rs7664129	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685237	0.90[AMR][1000 genomes]
rs7689949	0.94[AMR][1000 genomes]
rs7698469	0.94[AMR][1000 genomes]
rs9997618	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv880293	chr4:159012365-159049020	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13137328	TMEM144	cis	Esophagus Muscularis	GTEx
rs13137328	RP11-597D13.9	cis	Skin Sun Exposed Lower leg	GTEx
rs13137328	RP11-597D13.9	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159014400-159017200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:159016200-159020400	Weak transcription	HepG2	liver
3	chr4:159016400-159024000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:159017000-159018200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:159017000-159020000	Weak transcription	Ovary	ovary
6	chr4:159017000-159020400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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