Variant report

Variant	rs74029374
Chromosome Location	chr16:82120358-82120359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11649253	0.81[ASN][1000 genomes]
rs16956161	1.00[EUR][1000 genomes]
rs16956202	1.00[EUR][1000 genomes]
rs2317419	1.00[EUR][1000 genomes]
rs4536470	1.00[EUR][1000 genomes]
rs4541072	1.00[EUR][1000 genomes]
rs58097356	1.00[EUR][1000 genomes]
rs59976110	1.00[EUR][1000 genomes]
rs61537150	1.00[EUR][1000 genomes]
rs6564956	1.00[EUR][1000 genomes]
rs6564957	1.00[EUR][1000 genomes]
rs7186963	1.00[EUR][1000 genomes]
rs7187298	1.00[EUR][1000 genomes]
rs7194226	1.00[EUR][1000 genomes]
rs7202626	1.00[EUR][1000 genomes]
rs72547403	1.00[ASN][1000 genomes]
rs72550716	1.00[ASN][1000 genomes]
rs73600709	1.00[EUR][1000 genomes]
rs73600740	1.00[EUR][1000 genomes]
rs73603064	1.00[EUR][1000 genomes]
rs73603078	1.00[EUR][1000 genomes]
rs8053337	1.00[EUR][1000 genomes]
rs8191135	1.00[EUR][1000 genomes]
rs8191155	1.00[EUR][1000 genomes]
rs8191158	1.00[EUR][1000 genomes]
rs8191198	1.00[EUR][1000 genomes]
rs8191207	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8191211	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8191220	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8191226	1.00[ASN][1000 genomes]
rs8191246	1.00[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	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82104800-82124400	Weak transcription	Fetal Stomach	stomach
2	chr16:82116000-82127400	Weak transcription	Gastric	stomach
3	chr16:82117200-82124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82117400-82121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:82117800-82122800	Enhancers	Liver	Liver
6	chr16:82117800-82124000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
8	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
9	chr16:82119000-82123400	Weak transcription	HepG2	liver
10	chr16:82119200-82123800	Weak transcription	Fetal Intestine Small	intestine
11	chr16:82119200-82129000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:82119400-82124200	Weak transcription	Fetal Intestine Large	intestine
14	chr16:82119400-82124600	Weak transcription	NHEK	skin
15	chr16:82119400-82126200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:82119600-82124200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:82120000-82120800	Strong transcription	Placenta	Placenta

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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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