Variant report

Variant	rs34578387
Chromosome Location	chr1:186546176-186546177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:186546076-186546951	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186488450..186491951-chr1:186545141..186547515,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228238	TF binding region
ENSG00000273198	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10489396	0.91[EUR][1000 genomes]
rs10489397	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10911888	0.81[ASN][1000 genomes]
rs10911899	0.82[EUR][1000 genomes]
rs1108635	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11799322	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11800288	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800338	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800651	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11801527	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11801617	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11802553	0.83[EUR][1000 genomes]
rs11802705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803944	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11803969	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11804161	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11804785	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805597	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11806017	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11806329	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11806663	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11806701	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807318	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807443	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11807927	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808165	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11808643	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11808900	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11809088	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11810534	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11811047	0.83[EUR][1000 genomes]
rs11811259	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811260	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811335	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11812050	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12239058	0.82[EUR][1000 genomes]
rs12723621	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12726528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12726764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12731288	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12731687	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12734267	0.83[EUR][1000 genomes]
rs12734420	0.83[EUR][1000 genomes]
rs12739006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12739643	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12747113	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12747991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12750686	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12752376	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12753223	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12754662	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16825361	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16825403	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16825434	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16825473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16825519	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16825600	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16825639	0.82[EUR][1000 genomes]
rs16825646	0.82[EUR][1000 genomes]
rs16825671	0.83[EUR][1000 genomes]
rs16825681	0.83[EUR][1000 genomes]
rs16825687	0.83[EUR][1000 genomes]
rs1883650	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883651	0.83[EUR][1000 genomes]
rs1883652	0.82[EUR][1000 genomes]
rs2008704	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2206974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2223783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2223784	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383512	0.89[EUR][1000 genomes]
rs2383513	0.91[EUR][1000 genomes]
rs2383514	0.91[EUR][1000 genomes]
rs2891249	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2891250	0.82[EUR][1000 genomes]
rs33963275	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs33996079	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34200789	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34228564	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34249733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34272627	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34310508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34365031	0.82[EUR][1000 genomes]
rs34459464	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34513409	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34778311	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34781399	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34783173	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34858233	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35205448	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35206897	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35240980	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35326401	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35461575	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35481005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35636342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35868587	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35945739	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36016361	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36030781	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36053737	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901243	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3933210	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4140432	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4140434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511065	0.82[EUR][1000 genomes]
rs58626385	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6425035	0.81[ASN][1000 genomes]
rs6674145	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6677346	0.81[ASN][1000 genomes]
rs6678198	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680055	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682896	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683271	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71516963	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71634161	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71634164	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71634167	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71634173	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71634175	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71634176	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71634178	0.82[EUR][1000 genomes]
rs71634179	0.82[EUR][1000 genomes]
rs71634186	0.83[EUR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186541000-186546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:186544000-186546400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:186544200-186546200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:186544600-186546400	Enhancers	Adipose Nuclei	Adipose
5	chr1:186544800-186546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:186545000-186546200	Weak transcription	HMEC	breast
7	chr1:186545200-186546200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:186545400-186546200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:186545400-186548000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186545800-186546200	Weak transcription	HUVEC	blood vessel
11	chr1:186545800-186547000	Enhancers	Hela-S3	cervix
12	chr1:186546000-186546800	Weak transcription	Gastric	stomach

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