Variant report

Variant	rs55912480
Chromosome Location	chr2:127942602-127942603
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	chr2:127941736..127944495-chr2:127944989..127948181,3	K562	blood:
2	chr2:127941795..127944495-chr2:127946348..127948181,2	K562	blood:

Extended variants
information (count: 31 )
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]
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:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127934400-127946600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:127934600-127955000	Weak transcription	NHEK	skin
3	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:127934800-127944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:127935000-127944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:127938000-127944400	Weak transcription	Fetal Lung	lung
7	chr2:127939200-127943600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:127939200-127943600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:127939200-127943800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:127939400-127943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:127939800-127945400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:127940200-127944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:127940200-127944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:127940400-127947200	Strong transcription	Fetal Stomach	stomach
15	chr2:127940600-127944400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:127940600-127944800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:127940800-127944400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:127941000-127963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:127941200-127943000	Enhancers	Fetal Thymus	thymus
20	chr2:127941200-127944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:127941200-127944800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:127941400-127945000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:127941600-127944400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:127941600-127944400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:127941600-127944400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:127941600-127944600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:127941600-127945000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:127942400-127943000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:127942400-127943000	Enhancers	Spleen	Spleen
30	chr2:127942400-127943600	Enhancers	Adipose Nuclei	Adipose
31	chr2:127942400-127943600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:127942600-127943000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:127942600-127943000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:127942600-127943000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:127942600-127943000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr2:127942600-127943000	Enhancers	Lung	lung
37	chr2:127942600-127943400	Enhancers	HUVEC	blood vessel

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