Variant report

Variant	rs28369880
Chromosome Location	chr1:171169723-171169724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28369797	1.00[AFR][1000 genomes]
rs28369800	0.89[AFR][1000 genomes]
rs28369869	1.00[AFR][1000 genomes]
rs28369899	1.00[AFR][1000 genomes]
rs28369907	0.94[AFR][1000 genomes]
rs28369908	1.00[AFR][1000 genomes]
rs28369911	1.00[AFR][1000 genomes]
rs28384824	0.94[AFR][1000 genomes]
rs61098520	1.00[AFR][1000 genomes]
rs74122248	1.00[AFR][1000 genomes]
rs74122253	1.00[AFR][1000 genomes]
rs74122288	1.00[AFR][1000 genomes]
rs74122291	1.00[AFR][1000 genomes]
rs74122299	0.94[AFR][1000 genomes]
rs74122301	0.94[AFR][1000 genomes]
rs74122302	0.94[AFR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
3	chr1:171156600-171179600	Weak transcription	NHLF	lung
4	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
5	chr1:171161000-171171800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:171165600-171173400	Strong transcription	Left Ventricle	heart
7	chr1:171165800-171174400	Weak transcription	Stomach Mucosa	stomach
8	chr1:171166000-171174600	Weak transcription	Pancreas	Pancrea
9	chr1:171166000-171178000	Weak transcription	Psoas Muscle	Psoas
10	chr1:171166000-171184000	Weak transcription	Gastric	stomach
11	chr1:171166600-171175400	Strong transcription	Adipose Nuclei	Adipose
12	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:171168400-171170200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:171168400-171170400	Strong transcription	Fetal Lung	lung
15	chr1:171168400-171171800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:171168800-171170200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:171169200-171176200	Weak transcription	Lung	lung
18	chr1:171169400-171169800	Enhancers	Right Atrium	heart
19	chr1:171169600-171170000	Genic enhancers	Aorta	Aorta

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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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