Variant report

Variant	rs9473293
Chromosome Location	chr6:13051585-13051586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13049101..13052016-chr6:13052702..13054545,2	K562	blood:

Variant related genes	Relation type
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10440826	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966454	1.00[AMR][1000 genomes]
rs11967029	1.00[AMR][1000 genomes]
rs34367742	1.00[AMR][1000 genomes]
rs56275338	1.00[AMR][1000 genomes]
rs7357013	1.00[AMR][1000 genomes]
rs73723398	1.00[AMR][1000 genomes]
rs73723401	1.00[AMR][1000 genomes]
rs7453683	1.00[AMR][1000 genomes]
rs9395425	1.00[AMR][1000 genomes]
rs9463366	1.00[AMR][1000 genomes]
rs9463368	1.00[AMR][1000 genomes]
rs9463382	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9463409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9463422	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9463445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473055	1.00[AMR][1000 genomes]
rs9473057	1.00[AMR][1000 genomes]
rs9473110	1.00[AMR][1000 genomes]
rs9473169	1.00[AMR][1000 genomes]
rs9473206	1.00[AMR][1000 genomes]
rs9473258	0.87[AFR][1000 genomes]
rs9473351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473417	1.00[AMR][1000 genomes]
rs9473483	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473487	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13029800-13056400	Weak transcription	Pancreas	Pancrea
2	chr6:13030000-13056400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:13038200-13053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13039400-13054800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:13039400-13071600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:13040000-13058000	Weak transcription	Fetal Brain Male	brain
7	chr6:13045000-13053000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:13045200-13053400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:13046400-13053000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:13046600-13052200	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:13048400-13063400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:13048600-13053600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:13048600-13058000	Weak transcription	Lung	lung
14	chr6:13048800-13051600	Weak transcription	Left Ventricle	heart
15	chr6:13048800-13051800	Weak transcription	Right Ventricle	heart
16	chr6:13048800-13053000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:13049000-13052400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13049600-13052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13050200-13053800	Enhancers	Fetal Heart	heart
20	chr6:13050600-13054200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:13051000-13053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:13051000-13053600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:13051200-13052200	Enhancers	Aorta	Aorta
24	chr6:13051400-13054000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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