Variant report

Variant	rs72914592
Chromosome Location	chr2:55378635-55378636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55276124..55278386-chr2:55377199..55379824,2	MCF-7	breast:
2	chr2:55378428..55381284-chr2:55382487..55384417,2	MCF-7	breast:
3	chr2:55371026..55375430-chr2:55375600..55379751,6	K562	blood:
4	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12105622	1.00[EUR][1000 genomes]
rs72914591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914598	1.00[AMR][1000 genomes]
rs72916704	1.00[AMR][1000 genomes]
rs72916709	1.00[EUR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55367200-55378800	Weak transcription	Placenta	Placenta
3	chr2:55370000-55379600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
6	chr2:55375800-55379600	Weak transcription	K562	blood
7	chr2:55376000-55378800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:55376000-55378800	Weak transcription	Osteobl	bone
9	chr2:55376000-55379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:55376000-55380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55376000-55381000	Weak transcription	Fetal Thymus	thymus
12	chr2:55376000-55381000	Weak transcription	HSMM	muscle
13	chr2:55376000-55383800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:55376200-55378800	Weak transcription	NHDF-Ad	bronchial
15	chr2:55376200-55379000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:55376200-55379200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:55376200-55379400	Weak transcription	NHEK	skin
18	chr2:55376400-55380800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:55376800-55378800	Weak transcription	Lung	lung
20	chr2:55376800-55382000	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:55376800-55382400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:55377400-55380200	Weak transcription	Hela-S3	cervix
23	chr2:55377400-55381800	Enhancers	GM12878-XiMat	blood
24	chr2:55377400-55382000	Enhancers	Primary B cells from cord blood	blood
25	chr2:55377600-55381000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:55377600-55381800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:55378000-55386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:55378000-55386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:55378200-55379400	Enhancers	Brain Anterior Caudate	brain
30	chr2:55378200-55380200	Enhancers	Brain Angular Gyrus	brain
31	chr2:55378200-55381000	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:55378200-55382400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:55378200-55383600	Enhancers	Brain Substantia Nigra	brain
34	chr2:55378200-55386200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
37	chr2:55378400-55379800	Enhancers	HSMMtube	muscle
38	chr2:55378400-55381800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:55378400-55383800	Enhancers	NHLF	lung
40	chr2:55378600-55379200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55378600-55379800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55378600-55383200	Enhancers	Colon Smooth Muscle	Colon
43	chr2:55378600-55383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:55378600-55385600	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach

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