Variant report

Variant	rs1416518
Chromosome Location	chr6:128709651-128709652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17055834	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1890543	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2326682	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4351279	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs4895834	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57524201	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6569526	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589563	0.86[AFR][1000 genomes]
rs73589574	0.84[AFR][1000 genomes]
rs73589577	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754771	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7758826	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs8180639	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs9388633	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946425	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946426	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
3	chr6:128691200-128711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:128691600-128730400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:128697800-128733400	Weak transcription	HSMM	muscle
6	chr6:128698600-128709800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:128698800-128724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:128699200-128715000	Weak transcription	HepG2	liver
10	chr6:128699600-128720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:128699600-128724000	Weak transcription	NHEK	skin
12	chr6:128701800-128725400	Weak transcription	Ovary	ovary
13	chr6:128702200-128716200	Weak transcription	Liver	Liver
14	chr6:128703200-128716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
16	chr6:128704000-128710000	Weak transcription	Small Intestine	intestine
17	chr6:128704400-128715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:128706800-128709800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:128706800-128731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:128707800-128720800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:128708800-128712800	Enhancers	Fetal Heart	heart
22	chr6:128709000-128710200	Enhancers	Fetal Intestine Small	intestine
23	chr6:128709200-128711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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