Variant report

Variant	rs9443680
Chromosome Location	chr6:80243850-80243851
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	chr6:80242321..80244974-chr6:80252815..80254989,3	K562	blood:
2	chr6:80233762..80237001-chr6:80242844..80245026,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10223566	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12178357	0.84[AFR][1000 genomes]
rs16890780	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35338066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6925849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751498	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753591	0.88[YRI][hapmap]
rs7760022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763178	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443676	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs9443677	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448742	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr6:80207600-80246000	Weak transcription	Ovary	ovary
2	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
3	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
4	chr6:80218200-80244000	Weak transcription	Fetal Brain Female	brain
5	chr6:80234200-80246000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:80234400-80246400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:80235600-80246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:80235600-80246400	Weak transcription	Small Intestine	intestine
9	chr6:80235800-80246200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:80236000-80246000	Weak transcription	HSMM	muscle
11	chr6:80238200-80246000	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:80241200-80245000	Enhancers	K562	blood
13	chr6:80241200-80245600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:80241200-80245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:80242400-80246000	Weak transcription	Brain Angular Gyrus	brain
16	chr6:80242600-80245600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:80243000-80244600	Enhancers	Fetal Lung	lung
18	chr6:80243000-80249400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:80243200-80244600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:80243200-80245800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:80243400-80245200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:80243600-80244600	Weak transcription	HepG2	liver

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