Variant report

Variant	rs28531950
Chromosome Location	chr6:128775940-128775941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12332836	1.00[EUR][1000 genomes]
rs12717181	0.82[EUR][1000 genomes]
rs1341597	1.00[EUR][1000 genomes]
rs1341599	0.82[EUR][1000 genomes]
rs1891150	1.00[EUR][1000 genomes]
rs61143917	0.82[EUR][1000 genomes]
rs71568904	0.82[EUR][1000 genomes]
rs7775722	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491950	1.00[EUR][1000 genomes]
rs9491951	1.00[EUR][1000 genomes]
rs9491964	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:128753200-128777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:128756400-128776600	Weak transcription	Fetal Intestine Large	intestine
4	chr6:128759800-128786800	Weak transcription	Left Ventricle	heart
5	chr6:128761400-128778000	Weak transcription	Small Intestine	intestine
6	chr6:128765800-128777000	Weak transcription	HepG2	liver
7	chr6:128767800-128785200	Weak transcription	NHEK	skin
8	chr6:128768200-128785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:128770000-128776400	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:128770000-128776600	Weak transcription	Fetal Heart	heart
11	chr6:128770400-128777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:128773400-128795200	Weak transcription	HSMMtube	muscle
13	chr6:128774600-128786800	Weak transcription	Right Ventricle	heart
14	chr6:128774800-128777000	Weak transcription	Stomach Mucosa	stomach
15	chr6:128775200-128785800	Weak transcription	Ovary	ovary
16	chr6:128775400-128776800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:128775400-128781000	Weak transcription	Pancreas	Pancrea
18	chr6:128775400-128785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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