Variant report

Variant	rs73342865
Chromosome Location	chr7:50632044-50632045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17133889	1.00[AFR][1000 genomes]
rs59812849	0.89[AFR][1000 genomes]
rs60933571	0.94[AFR][1000 genomes]
rs60982288	1.00[AFR][1000 genomes]
rs61412038	1.00[AFR][1000 genomes]
rs73342867	1.00[AFR][1000 genomes]
rs73342870	1.00[AFR][1000 genomes]
rs73342880	0.95[AFR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:50630800-50633200	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:50630800-50633200	Active TSS	Fetal Intestine Small	intestine
5	chr7:50631000-50633400	Active TSS	Fetal Intestine Large	intestine
6	chr7:50631600-50633200	Flanking Active TSS	Liver	Liver
7	chr7:50631800-50632200	Flanking Active TSS	Pancreas	Pancrea
8	chr7:50631800-50632200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr7:50631800-50633000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:50631800-50633000	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:50631800-50633200	Active TSS	Fetal Kidney	kidney
12	chr7:50631800-50633400	Active TSS	Colonic Mucosa	Colon
13	chr7:50631800-50633400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:50631800-50633800	Enhancers	Adipose Nuclei	Adipose
15	chr7:50631800-50633800	Flanking Active TSS	HepG2	liver
16	chr7:50632000-50632200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:50632000-50632200	Enhancers	Gastric	stomach
18	chr7:50632000-50634000	Enhancers	Stomach Mucosa	stomach

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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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