Variant report

Variant	rs73953271
Chromosome Location	chr2:127934666-127934667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127931709..127933400-chr2:127933825..127936589,2	K562	blood:

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]
rs55897983	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]
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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127930000-127935600	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:127930000-127935600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:127930400-127934800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:127930400-127935000	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:127930400-127935800	Enhancers	Fetal Stomach	stomach
6	chr2:127931000-127936800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:127932000-127934800	Enhancers	Fetal Lung	lung
8	chr2:127932400-127935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:127932600-127934800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr2:127932600-127935600	Bivalent Enhancer	Placenta	Placenta
11	chr2:127933400-127935000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:127933400-127935200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:127933400-127935600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:127933600-127935000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:127933600-127935000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:127933800-127934800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr2:127934000-127934800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:127934000-127934800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:127934000-127935000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:127934000-127935000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr2:127934200-127934800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:127934200-127934800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr2:127934200-127935000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:127934200-127935200	Enhancers	Brain Hippocampus Middle	brain
25	chr2:127934400-127934800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:127934400-127934800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:127934400-127935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:127934400-127935200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:127934400-127935600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:127934400-127935600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:127934400-127940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:127934400-127946600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:127934600-127935600	Enhancers	Brain Angular Gyrus	brain
34	chr2:127934600-127935600	Enhancers	Colonic Mucosa	Colon
35	chr2:127934600-127935600	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:127934600-127936600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:127934600-127938200	Weak transcription	Osteobl	bone
38	chr2:127934600-127955000	Weak transcription	NHEK	skin
39	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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