Variant report

Variant	rs58565807
Chromosome Location	chr12:9215699-9215700
allele	C/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	CTCF	chr12:9215676-9215734	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9213127..9215048-chr12:9215449..9217548,2	MCF-7	breast:
2	chr12:9213363..9214954-chr12:9215325..9217533,2	MCF-7	breast:
3	chr12:9215493..9217658-chr12:9271346..9273980,2	MCF-7	breast:
4	chr12:9100379..9103293-chr12:9215519..9218225,4	MCF-7	breast:

Variant related genes	Relation type
A2M-AS1	TF binding region
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11831631	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832509	1.00[AMR][1000 genomes]
rs11833184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833893	1.00[AMR][1000 genomes]
rs1805684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35040316	1.00[AMR][1000 genomes]
rs57018529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58097118	1.00[AMR][1000 genomes]
rs60105910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60289110	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246318	1.00[AMR][1000 genomes]
rs73246327	1.00[AMR][1000 genomes]
rs73246334	1.00[AMR][1000 genomes]
rs73246337	1.00[AMR][1000 genomes]
rs73246344	1.00[AMR][1000 genomes]
rs73246352	1.00[AMR][1000 genomes]
rs73246383	1.00[AMR][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking 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	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3348319	chr12:9214085-9216383	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3323686	chr12:9214285-9215983	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9199600-9216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9199800-9216200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9199800-9216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:9200000-9216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:9200000-9216200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9200000-9216200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:9200000-9216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:9202000-9216600	Weak transcription	Left Ventricle	heart
11	chr12:9202200-9216200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:9202200-9216200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:9202400-9216000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9204200-9216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:9211200-9216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:9213600-9216200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:9214600-9216800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:9215600-9216200	Enhancers	Hela-S3	cervix

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