Variant report

Variant	rs72994205
Chromosome Location	chr3:146264406-146264407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr3:146263792-146264410	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146261118..146264072-chr3:146264096..146268231,4	K562	blood:

Variant related genes	Relation type
PLSCR1	TF binding region
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56691733	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58725636	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60140018	0.85[AFR][1000 genomes]
rs72994217	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72994222	0.90[AFR][1000 genomes]
rs72994229	0.82[AFR][1000 genomes]
rs73865798	0.99[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	nsv1014493	chr3:146255594-146288414	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146262800-146267600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:146262800-146268600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:146263000-146264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:146263000-146267800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:146263200-146265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:146263200-146265600	Enhancers	HMEC	breast
7	chr3:146263200-146267000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:146263200-146267000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:146263200-146267200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:146263200-146267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:146263200-146267400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:146263200-146267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:146263200-146267400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:146263200-146267600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:146263200-146267600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:146263200-146267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:146263200-146267600	Weak transcription	Liver	Liver
18	chr3:146263200-146267800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:146263200-146268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:146263200-146268000	Weak transcription	Osteobl	bone
21	chr3:146263200-146268200	Weak transcription	A549	lung
22	chr3:146263200-146268800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:146263200-146268800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:146263200-146270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:146263400-146265000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:146263400-146265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:146263400-146265200	Enhancers	NHEK	skin
28	chr3:146263400-146267400	Weak transcription	Dnd41	blood
29	chr3:146263400-146267600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:146263400-146267600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:146263400-146267600	Weak transcription	Primary B cells from cord blood	blood
32	chr3:146263400-146267600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:146263400-146267600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:146263400-146267800	Weak transcription	NHDF-Ad	bronchial
38	chr3:146263400-146268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:146263600-146267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:146263600-146267600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:146263800-146267600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:146263800-146267800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:146263800-146267800	Weak transcription	NHLF	lung
44	chr3:146263800-146271800	Weak transcription	K562	blood
45	chr3:146264000-146264600	Weak transcription	GM12878-XiMat	blood
46	chr3:146264000-146265600	Enhancers	HepG2	liver
47	chr3:146264000-146267200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:146264200-146264600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:146264400-146264600	Enhancers	Primary B cells from peripheral blood	blood
50	chr3:146264400-146264600	Enhancers	Hela-S3	cervix

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