Variant report

Variant	rs72880849
Chromosome Location	chr2:47502236-47502237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47497455..47500389-chr2:47501805..47505272,3	MCF-7	breast:
2	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
3	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
4	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
5	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
6	chr2:47422552..47429870-chr2:47496148..47502457,12	MCF-7	breast:
7	chr2:47499816..47503436-chr2:47513629..47516577,3	MCF-7	breast:
8	chr2:47500714..47503481-chr2:47536098..47539031,2	K562	blood:
9	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
10	chr2:47397785..47406895-chr2:47495364..47504312,55	MCF-7	breast:
11	chr2:47499653..47503286-chr2:47546650..47549919,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12469004	0.85[ASN][1000 genomes]
rs12477224	0.85[ASN][1000 genomes]
rs13388457	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34852708	1.00[ASN][1000 genomes]
rs57343104	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6728024	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309145	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47499600-47514400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:47499800-47502600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47500000-47502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:47500000-47502600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:47500000-47502600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:47500000-47502800	Enhancers	Adipose Nuclei	Adipose
7	chr2:47500000-47502800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:47500000-47504000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:47500000-47511800	Weak transcription	Thymus	Thymus
10	chr2:47500200-47502600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:47500200-47502600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:47500200-47502600	Enhancers	NHDF-Ad	bronchial
13	chr2:47500200-47502800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:47500200-47503200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:47500200-47504000	Weak transcription	NHEK	skin
16	chr2:47500400-47502800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:47500400-47503400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:47500400-47503600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:47500400-47504000	Weak transcription	HMEC	breast
20	chr2:47500600-47502600	Enhancers	Brain Anterior Caudate	brain
21	chr2:47500600-47503000	Enhancers	Brain Substantia Nigra	brain
22	chr2:47500600-47503600	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:47500600-47504200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:47500600-47506600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:47500800-47503200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:47500800-47508800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:47501200-47502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:47501200-47503600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:47501200-47503800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:47501400-47502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:47501400-47505000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:47501400-47516000	Weak transcription	Stomach Mucosa	stomach
33	chr2:47501600-47502400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:47501600-47503600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:47502000-47502800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:47502000-47503800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:47502000-47504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:47502000-47504000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:47502000-47504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:47502000-47509600	Weak transcription	A549	lung
41	chr2:47502000-47517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:47502200-47503200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:47502200-47504000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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