Variant report

Variant	rs16865420
Chromosome Location	chr2:178450063-178450064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1867904	0.81[AFR][1000 genomes]
rs41493944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59509234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736063	0.83[AFR][1000 genomes]
rs73976747	0.83[AFR][1000 genomes]
rs73976777	0.83[AFR][1000 genomes]
rs73976778	0.83[AFR][1000 genomes]
rs73977640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178445000-178457800	Weak transcription	Right Ventricle	heart
2	chr2:178445200-178450200	Weak transcription	Fetal Intestine Large	intestine
3	chr2:178446000-178450200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:178449400-178450400	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:178449400-178452800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:178449800-178450600	Enhancers	Right Atrium	heart
7	chr2:178449800-178450600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:178449800-178450800	Enhancers	Liver	Liver
9	chr2:178449800-178451600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:178450000-178450200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:178450000-178450200	Enhancers	Colonic Mucosa	Colon
12	chr2:178450000-178450200	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:178450000-178450200	Flanking Active TSS	Pancreas	Pancrea
14	chr2:178450000-178450200	Flanking Active TSS	Psoas Muscle	Psoas
15	chr2:178450000-178450400	Active TSS	Brain Anterior Caudate	brain
16	chr2:178450000-178450400	Enhancers	Lung	lung
17	chr2:178450000-178450400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:178450000-178450400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:178450000-178450600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:178450000-178450600	Enhancers	Fetal Brain Male	brain
21	chr2:178450000-178450600	Enhancers	Gastric	stomach
22	chr2:178450000-178450600	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:178450000-178450800	Enhancers	Fetal Brain Female	brain
24	chr2:178450000-178450800	Enhancers	Fetal Heart	heart
25	chr2:178450000-178450800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:178450000-178450800	Enhancers	Stomach Mucosa	stomach
27	chr2:178450000-178450800	Flanking Active TSS	HepG2	liver
28	chr2:178450000-178451200	Enhancers	Small Intestine	intestine
29	chr2:178450000-178451400	Enhancers	Left Ventricle	heart

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