Variant report

Variant	rs72712641
Chromosome Location	chr1:171052218-171052219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16864125	0.81[ASN][1000 genomes]
rs17564210	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714112	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171050200-171053800	Enhancers	Fetal Intestine Large	intestine
2	chr1:171050600-171052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:171050600-171052800	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:171050600-171053600	Enhancers	Fetal Intestine Small	intestine
5	chr1:171050600-171053600	Enhancers	Fetal Lung	lung
6	chr1:171051000-171052600	Weak transcription	Right Ventricle	heart
7	chr1:171051000-171052800	Weak transcription	Fetal Heart	heart
8	chr1:171051000-171053200	Weak transcription	Stomach Mucosa	stomach
9	chr1:171051200-171052400	Weak transcription	Left Ventricle	heart
10	chr1:171051200-171052400	Weak transcription	Ovary	ovary
11	chr1:171051200-171052400	Weak transcription	Small Intestine	intestine
12	chr1:171051400-171052800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:171051400-171052800	Enhancers	NHLF	lung
14	chr1:171051400-171054000	Weak transcription	Fetal Kidney	kidney
15	chr1:171052000-171053000	Flanking Active TSS	Liver	Liver

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Input of quick search could be:

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

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