Variant report

Variant	rs72914598
Chromosome Location	chr2:55380814-55380815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55378428..55381284-chr2:55382487..55384417,2	MCF-7	breast:
2	chr2:55276755..55278811-chr2:55380705..55382664,2	K562	blood:
3	chr2:55277310..55277991-chr2:55380185..55381166,2	Hela-S3	cervix:
4	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1133183	0.92[AFR][1000 genomes]
rs17046786	0.84[AFR][1000 genomes]
rs35662893	0.84[AFR][1000 genomes]
rs3934624	0.85[AFR][1000 genomes]
rs4072424	0.85[AFR][1000 genomes]
rs59727596	0.84[AFR][1000 genomes]
rs60218056	0.84[AFR][1000 genomes]
rs6744208	0.91[AFR][1000 genomes]
rs72914588	0.91[AFR][1000 genomes]
rs72914589	1.00[AFR][1000 genomes]
rs72914591	1.00[AMR][1000 genomes]
rs72914592	1.00[AMR][1000 genomes]
rs72916704	1.00[AMR][1000 genomes]
rs72916724	0.92[AFR][1000 genomes]
rs72916760	0.92[AFR][1000 genomes]
rs72918903	0.84[AFR][1000 genomes]
rs72918908	0.84[AFR][1000 genomes]
rs72918925	0.84[AFR][1000 genomes]
rs72918936	0.84[AFR][1000 genomes]
rs72918947	0.84[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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
4	chr2:55376000-55381000	Weak transcription	Fetal Thymus	thymus
5	chr2:55376000-55381000	Weak transcription	HSMM	muscle
6	chr2:55376000-55383800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:55376800-55382000	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:55376800-55382400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:55377400-55381800	Enhancers	GM12878-XiMat	blood
10	chr2:55377400-55382000	Enhancers	Primary B cells from cord blood	blood
11	chr2:55377600-55381000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:55377600-55381800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:55378000-55386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:55378000-55386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:55378200-55381000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:55378200-55382400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:55378200-55383600	Enhancers	Brain Substantia Nigra	brain
18	chr2:55378200-55386200	Enhancers	Brain Hippocampus Middle	brain
19	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
21	chr2:55378400-55381800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:55378400-55383800	Enhancers	NHLF	lung
23	chr2:55378600-55383200	Enhancers	Colon Smooth Muscle	Colon
24	chr2:55378600-55383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:55378600-55385600	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach
28	chr2:55378800-55382000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:55378800-55382600	Enhancers	Placenta	Placenta
30	chr2:55378800-55383200	Enhancers	Fetal Brain Male	brain
31	chr2:55378800-55383600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:55378800-55385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:55378800-55386800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:55379000-55381000	Weak transcription	Esophagus	oesophagus
35	chr2:55379000-55382000	Weak transcription	Left Ventricle	heart
36	chr2:55379000-55384200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:55379200-55381000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:55379200-55381000	Weak transcription	Spleen	Spleen
39	chr2:55379200-55383000	Enhancers	Fetal Brain Female	brain
40	chr2:55379200-55383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55379200-55385200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:55379400-55381000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:55379400-55381800	Enhancers	Small Intestine	intestine
44	chr2:55379400-55385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:55379400-55386600	Enhancers	Fetal Intestine Large	intestine
46	chr2:55379400-55387000	Enhancers	Fetal Intestine Small	intestine
47	chr2:55379600-55381000	Weak transcription	Aorta	Aorta
48	chr2:55379600-55381000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:55379600-55382200	Enhancers	K562	blood
50	chr2:55379600-55385000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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