Variant report

Variant	rs72992134
Chromosome Location	chr2:145135055-145135056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145127904..145130158-chr2:145132962..145135705,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1256916	1.00[AMR][1000 genomes]
rs16823571	1.00[AMR][1000 genomes]
rs16823594	1.00[AMR][1000 genomes]
rs16823596	1.00[AMR][1000 genomes]
rs16823598	1.00[AMR][1000 genomes]
rs16823607	1.00[AMR][1000 genomes]
rs16823684	1.00[AMR][1000 genomes]
rs16823718	1.00[AMR][1000 genomes]
rs60695751	1.00[AMR][1000 genomes]
rs6430063	1.00[AMR][1000 genomes]
rs6761553	1.00[AMR][1000 genomes]
rs72992123	1.00[AMR][1000 genomes]
rs72992136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008262	1.00[AMR][1000 genomes]
rs73008283	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr2:145129000-145137800	Weak transcription	Fetal Heart	heart
2	chr2:145130400-145136000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:145130400-145137200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:145130400-145137400	Weak transcription	Lung	lung
5	chr2:145130400-145137600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:145130600-145135200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:145130600-145137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:145130600-145137400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:145130600-145141800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:145131000-145136000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:145131000-145137200	Weak transcription	Ovary	ovary
12	chr2:145131200-145137800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:145131400-145135200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:145131400-145143600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:145131800-145136400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:145132000-145136400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:145132000-145137200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:145132000-145137200	Weak transcription	Fetal Lung	lung
19	chr2:145132000-145137400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:145132400-145136200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:145132400-145137400	Weak transcription	NHLF	lung
22	chr2:145132400-145146200	Weak transcription	NH-A	brain
23	chr2:145132600-145135400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:145132600-145135600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:145132600-145137000	Weak transcription	Brain Substantia Nigra	brain
26	chr2:145132600-145137200	Weak transcription	Right Atrium	heart
27	chr2:145132600-145138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:145132600-145143600	Weak transcription	Spleen	Spleen
29	chr2:145132800-145137200	Weak transcription	Aorta	Aorta
30	chr2:145132800-145139400	Weak transcription	GM12878-XiMat	blood
31	chr2:145133800-145136200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:145133800-145136200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:145133800-145136200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:145134000-145136200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:145134200-145135200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:145134200-145135200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:145134200-145135600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:145134200-145136200	Enhancers	Osteobl	bone
39	chr2:145134600-145135600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:145134600-145136200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:145134600-145136400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:145134800-145136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:145134800-145137600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:145134800-145143000	Weak transcription	Placenta	Placenta
45	chr2:145135000-145135400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:145135000-145136600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:145135000-145136600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:145135000-145137000	Enhancers	K562	blood
49	chr2:145135000-145137200	Enhancers	HSMMtube	muscle
50	chr2:145135000-145137400	Enhancers	HSMM	muscle

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