Variant report

Variant	rs72912597
Chromosome Location	chr2:55283385-55283386
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	chr2:55276015..55279401-chr2:55283233..55288147,9	MCF-7	breast:
2	chr2:55282373..55283908-chr2:55365419..55368090,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56153341	0.96[AFR][1000 genomes]
rs56244204	0.90[AFR][1000 genomes]
rs57068800	0.93[AFR][1000 genomes]
rs58954291	1.00[AFR][1000 genomes]
rs60109716	1.00[AFR][1000 genomes]
rs61344395	0.81[AFR][1000 genomes]
rs72910860	0.86[AFR][1000 genomes]
rs72910870	1.00[AFR][1000 genomes]
rs72912565	0.96[AFR][1000 genomes]
rs72912586	1.00[AFR][1000 genomes]
rs72912589	0.93[AFR][1000 genomes]
rs72914504	1.00[AFR][1000 genomes]
rs72914511	0.93[AFR][1000 genomes]
rs72914518	0.81[AFR][1000 genomes]
rs7583051	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55278200-55288800	Weak transcription	Lung	lung
2	chr2:55278800-55288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55278800-55290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:55279000-55287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:55279000-55290600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:55279400-55283400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:55279400-55283400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:55279400-55287600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:55279800-55284200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:55279800-55284400	Weak transcription	Fetal Heart	heart
11	chr2:55279800-55287400	Weak transcription	HSMM	muscle
12	chr2:55280000-55289000	Weak transcription	HepG2	liver
13	chr2:55280200-55287200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:55280200-55288200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:55281800-55287600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:55282400-55283400	Weak transcription	GM12878-XiMat	blood
17	chr2:55282800-55283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:55283000-55283400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:55283000-55283400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:55283000-55283600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:55283000-55284200	Enhancers	Primary B cells from cord blood	blood
22	chr2:55283200-55283400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:55283200-55283600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:55283200-55283600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:55283200-55283600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:55283200-55283600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:55283200-55283600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:55283200-55283600	Enhancers	HMEC	breast
29	chr2:55283200-55283600	Enhancers	NHDF-Ad	bronchial
30	chr2:55283200-55283600	Enhancers	Osteobl	bone
31	chr2:55283200-55283800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:55283200-55283800	Enhancers	A549	lung
33	chr2:55283200-55283800	Enhancers	K562	blood
34	chr2:55283200-55284000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:55283200-55284200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:55283200-55284200	Enhancers	Primary B cells from peripheral blood	blood

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