Variant report

Variant	rs73485417
Chromosome Location	chr6:86355573-86355574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr6:86355181-86355661	U2OS	brain:	n/a	n/a
2	KAP1	chr6:86355181-86355595	K562	blood:	n/a	n/a
3	CBX3	chr6:86354963-86355683	HCT-116	colon:	n/a	n/a
4	KAP1	chr6:86355204-86355593	U2OS	brain:	n/a	n/a
5	CBX3	chr6:86355060-86355662	K562	blood:	n/a	n/a
6	KAP1	chr6:86355082-86355679	HEK293	kidney:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
2	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
3	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
4	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
5	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
6	chr6:86262845..86265792-chr6:86354340..86355847,2	K562	blood:

No data

Variant related genes	Relation type
SYNCRIP	TF binding region
ENSG00000135317	Chromatin interaction
ENSG00000203875	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56743649	0.88[AFR][1000 genomes]
rs59754974	0.94[AFR][1000 genomes]
rs60437369	0.88[AFR][1000 genomes]
rs60564421	0.94[AFR][1000 genomes]
rs73481340	0.88[AFR][1000 genomes]
rs73481343	0.88[AFR][1000 genomes]
rs73481361	0.88[AFR][1000 genomes]
rs73481395	0.88[AFR][1000 genomes]
rs73481397	0.88[AFR][1000 genomes]
rs73483557	0.88[AFR][1000 genomes]
rs73483570	0.82[AFR][1000 genomes]
rs73483572	0.88[AFR][1000 genomes]
rs73483573	0.88[AFR][1000 genomes]
rs73483583	0.88[AFR][1000 genomes]
rs73483591	0.91[AFR][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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS 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	124 gene(s)	inside rSNPs	diseases
4	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
5	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86350600-86355600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:86354000-86355600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:86354200-86374400	Weak transcription	Left Ventricle	heart
4	chr6:86354400-86355600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:86354600-86355600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:86354600-86355600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:86354600-86355600	Enhancers	Fetal Brain Female	brain
8	chr6:86354600-86355600	Active TSS	Fetal Kidney	kidney
9	chr6:86354600-86355600	Weak transcription	Right Ventricle	heart
10	chr6:86354600-86355600	Enhancers	NHLF	lung
11	chr6:86354600-86355800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:86354600-86369600	Weak transcription	Ovary	ovary
13	chr6:86354600-86372200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:86354600-86384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:86355000-86355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:86355000-86355600	Enhancers	HSMM	muscle
17	chr6:86355000-86355800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:86355000-86356000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:86355200-86355600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:86355200-86355600	Active TSS	Adipose Nuclei	Adipose
21	chr6:86355200-86355600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:86355200-86355600	Flanking Active TSS	A549	lung
23	chr6:86355200-86355800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:86355200-86356400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:86355200-86369800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:86355200-86377000	Weak transcription	Thymus	Thymus
27	chr6:86355200-86380400	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:86355400-86355600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:86355400-86355600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:86355400-86355600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:86355400-86355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:86355400-86355600	Active TSS	Fetal Lung	lung
33	chr6:86355400-86355600	Enhancers	Hela-S3	cervix
34	chr6:86355400-86355600	Enhancers	HepG2	liver
35	chr6:86355400-86355600	Active TSS	HSMMtube	muscle
36	chr6:86355400-86355800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:86355400-86358600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:86355400-86384400	Weak transcription	Pancreas	Pancrea

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