Variant report

Variant	rs72914588
Chromosome Location	chr2:55375272-55375273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55371026..55375430-chr2:55375600..55379751,6	K562	blood:
2	chr2:55366681..55370422-chr2:55372358..55376649,9	K562	blood:
3	chr2:55368832..55370528-chr2:55373910..55375514,2	MCF-7	breast:
4	chr2:55276212..55277768-chr2:55374247..55375833,2	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]
rs1133183	0.84[AFR][1000 genomes]
rs17046786	0.91[AFR][1000 genomes]
rs35662893	0.91[AFR][1000 genomes]
rs59727596	0.91[AFR][1000 genomes]
rs60218056	0.91[AFR][1000 genomes]
rs6744208	1.00[AFR][1000 genomes]
rs72914589	0.91[AFR][1000 genomes]
rs72914598	0.91[AFR][1000 genomes]
rs72916724	0.84[AFR][1000 genomes]
rs72916760	0.84[AFR][1000 genomes]
rs72918903	0.91[AFR][1000 genomes]
rs72918908	0.91[AFR][1000 genomes]
rs72918925	0.91[AFR][1000 genomes]
rs72918936	0.91[AFR][1000 genomes]
rs72918947	0.91[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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:55366200-55378600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:55367200-55378800	Weak transcription	Placenta	Placenta
6	chr2:55369800-55378200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:55369800-55378600	Weak transcription	Fetal Stomach	stomach
8	chr2:55370000-55375600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:55370000-55379600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:55371800-55375800	Enhancers	K562	blood
12	chr2:55373000-55376000	Enhancers	HSMMtube	muscle
13	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
14	chr2:55373800-55375600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:55373800-55375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:55373800-55378600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:55374000-55378000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:55374600-55377400	Enhancers	Hela-S3	cervix
19	chr2:55374800-55376600	Enhancers	HUVEC	blood vessel
20	chr2:55374800-55377400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:55375000-55376200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:55375000-55376200	Enhancers	NHDF-Ad	bronchial
23	chr2:55375000-55376200	Enhancers	NHEK	skin
24	chr2:55375000-55376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:55375000-55376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:55375200-55376000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:55375200-55376000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:55375200-55376000	Enhancers	Osteobl	bone
29	chr2:55375200-55376600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:55375200-55378400	Enhancers	Monocytes-CD14+_RO01746	blood

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