Variant report

Variant	rs55897983
Chromosome Location	chr2:127930977-127930978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35075135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55912480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56911251	1.00[AMR][1000 genomes]
rs73953271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953287	1.00[AMR][1000 genomes]
rs73953288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953289	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953290	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953291	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953292	1.00[AMR][1000 genomes]
rs73953302	1.00[AMR][1000 genomes]
rs73956513	1.00[AMR][1000 genomes]
rs73956524	1.00[AMR][1000 genomes]
rs73956527	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	8 gene(s)	inside rSNPs	diseases
9	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127917400-127931600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:127921800-127934000	Weak transcription	Pancreas	Pancrea
3	chr2:127923800-127931600	Weak transcription	Fetal Thymus	thymus
4	chr2:127928200-127932400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:127928600-127933800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:127929000-127932400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:127929000-127932400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:127929000-127933800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:127929200-127931000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:127929200-127931600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:127929200-127931800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:127929200-127932400	Weak transcription	Liver	Liver
13	chr2:127929200-127934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:127929400-127933400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:127930000-127931200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:127930000-127933400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:127930000-127934000	Enhancers	Adipose Nuclei	Adipose
18	chr2:127930000-127934000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:127930000-127935600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:127930000-127935600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:127930200-127931000	Enhancers	Brain Hippocampus Middle	brain
22	chr2:127930200-127931200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:127930200-127931400	Enhancers	NHDF-Ad	bronchial
24	chr2:127930200-127931400	Enhancers	Osteobl	bone
25	chr2:127930200-127931600	Enhancers	Fetal Lung	lung
26	chr2:127930200-127933600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:127930400-127931000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:127930400-127931000	Enhancers	Psoas Muscle	Psoas
29	chr2:127930400-127931000	Enhancers	HSMM	muscle
30	chr2:127930400-127931200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:127930400-127931200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:127930400-127931200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:127930400-127931200	Enhancers	Placenta	Placenta
34	chr2:127930400-127931200	Enhancers	NHEK	skin
35	chr2:127930400-127931200	Enhancers	NHLF	lung
36	chr2:127930400-127931800	Enhancers	NH-A	brain
37	chr2:127930400-127932200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:127930400-127932600	Weak transcription	Esophagus	oesophagus
39	chr2:127930400-127933600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:127930400-127934200	Enhancers	Brain Substantia Nigra	brain
41	chr2:127930400-127934800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:127930400-127935000	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:127930400-127935800	Enhancers	Fetal Stomach	stomach
44	chr2:127930600-127931200	Enhancers	HSMMtube	muscle
45	chr2:127930600-127934000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:127930800-127931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:127930800-127931000	Weak transcription	Fetal Brain Male	brain
48	chr2:127930800-127931200	Enhancers	HMEC	breast
49	chr2:127930800-127932200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:127930800-127932400	Weak transcription	Fetal Kidney	kidney

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