Variant report

Variant	rs1223545
Chromosome Location	chr6:13161879-13161880
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	chr6:13156962..13159022-chr6:13161516..13164006,2	K562	blood:
2	chr6:13160326..13163305-chr6:13276247..13279220,2	K562	blood:

Variant related genes	Relation type
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1150594	0.84[GIH][hapmap]
rs1150607	0.93[CHD][hapmap];0.96[GIH][hapmap];0.86[MEX][hapmap]
rs1223531	0.88[JPT][hapmap]
rs1223534	0.88[JPT][hapmap]
rs1223538	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs1223541	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap]
rs1223544	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1223547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1223548	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1223549	1.00[GIH][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes]
rs1223550	0.82[EUR][1000 genomes]
rs1223551	0.89[GIH][hapmap];0.80[EUR][1000 genomes]
rs1228529	1.00[CEU][hapmap];0.96[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16873711	0.90[YRI][hapmap]
rs1781696	0.84[CEU][hapmap]
rs9463499	0.86[YRI][hapmap]
rs9463532	0.86[YRI][hapmap]
rs9473639	0.90[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13150000-13175600	Weak transcription	Lung	lung
2	chr6:13153400-13178000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13153600-13164400	Weak transcription	Brain Germinal Matrix	brain
4	chr6:13153600-13167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13153600-13178200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:13153600-13178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:13153800-13168000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:13153800-13184200	Weak transcription	Aorta	Aorta
9	chr6:13154000-13175600	Weak transcription	Fetal Heart	heart
10	chr6:13157000-13164600	Weak transcription	Pancreas	Pancrea
11	chr6:13157000-13166000	Weak transcription	Brain Anterior Caudate	brain
12	chr6:13159200-13181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:13159600-13178400	Weak transcription	Right Ventricle	heart
14	chr6:13159800-13165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13160000-13166000	Weak transcription	HSMM	muscle
16	chr6:13160000-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:13160000-13177400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:13160200-13162200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:13160200-13163000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:13160600-13162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:13160600-13163200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:13161000-13162000	Weak transcription	Left Ventricle	heart

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