Variant report

Variant	rs72974028
Chromosome Location	chr6:128702419-128702420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17361665	0.91[AMR][1000 genomes]
rs17430298	0.84[EUR][1000 genomes]
rs72972098	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72974018	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72974031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974039	1.00[AFR][1000 genomes]
rs72974041	1.00[AFR][1000 genomes]
rs72974042	1.00[AMR][1000 genomes]
rs72974046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7764930	0.97[EUR][1000 genomes]
rs961292	1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128706800	Weak transcription	Gastric	stomach
3	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
4	chr6:128690000-128704400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:128691200-128711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:128691600-128730400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:128697800-128733400	Weak transcription	HSMM	muscle
8	chr6:128698600-128709800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:128698800-128709000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:128698800-128724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:128699200-128715000	Weak transcription	HepG2	liver
13	chr6:128699400-128703200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:128699600-128720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:128699600-128724000	Weak transcription	NHEK	skin
16	chr6:128700800-128702800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:128701000-128706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:128701800-128725400	Weak transcription	Ovary	ovary
19	chr6:128702200-128703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:128702200-128716200	Weak transcription	Liver	Liver
21	chr6:128702400-128704000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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