Variant report

Variant	rs73115872
Chromosome Location	chr1:223264902-223264903
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	chr1:223255571..223258330-chr1:223261205..223265353,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1019278	1.00[AMR][1000 genomes]
rs11488546	1.00[AMR][1000 genomes]
rs2487832	1.00[AMR][1000 genomes]
rs28584917	1.00[AMR][1000 genomes]
rs36056653	1.00[AMR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs61737415	1.00[AMR][1000 genomes]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][1000 genomes]
rs73120270	1.00[AMR][1000 genomes]
rs73120271	1.00[AMR][1000 genomes]
rs73120274	1.00[AMR][1000 genomes]
rs73120283	1.00[AMR][1000 genomes]
rs73120288	1.00[AMR][1000 genomes]
rs73122203	1.00[AMR][1000 genomes]
rs73122204	1.00[AMR][1000 genomes]
rs73122205	1.00[AMR][1000 genomes]
rs73122207	1.00[AMR][1000 genomes]
rs73122216	1.00[AMR][1000 genomes]
rs73122222	1.00[AMR][1000 genomes]
rs73122236	1.00[AMR][1000 genomes]
rs73122239	1.00[AMR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:223254800-223266800	Weak transcription	Left Ventricle	heart
2	chr1:223255000-223269000	Weak transcription	Right Ventricle	heart
3	chr1:223263400-223266800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:223263400-223270600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223263600-223266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:223263800-223265600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:223263800-223266400	Weak transcription	Fetal Brain Male	brain
8	chr1:223263800-223267400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:223264200-223266400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:223264600-223267200	Weak transcription	Lung	lung
11	chr1:223264800-223265800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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