Variant report

Variant	rs196673
Chromosome Location	chr6:80114102-80114103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17799548	0.85[EUR][1000 genomes]
rs196663	0.93[EUR][1000 genomes]
rs196672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs196677	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3890856	0.85[EUR][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	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	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80109000-80115800	Enhancers	Fetal Intestine Large	intestine
2	chr6:80109600-80121200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:80110200-80114200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:80112000-80114800	Enhancers	Fetal Intestine Small	intestine
5	chr6:80112400-80114200	Enhancers	Ovary	ovary
6	chr6:80112400-80114800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:80112600-80114400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:80113000-80115000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:80113000-80115400	Enhancers	Liver	Liver
10	chr6:80113200-80114200	Enhancers	HepG2	liver
11	chr6:80113400-80114400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:80113400-80114400	Weak transcription	Stomach Mucosa	stomach
13	chr6:80113400-80122800	Weak transcription	Fetal Lung	lung
14	chr6:80113600-80114200	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:80114000-80114600	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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