Variant report

Variant	rs56691733
Chromosome Location	chr3:146267877-146267878
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	chr3:146261118..146264072-chr3:146264096..146268231,4	K562	blood:
2	chr3:146262497..146265789-chr3:146267406..146270879,3	MCF-7	breast:

Variant related genes	Relation type
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]
rs58725636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60140018	0.93[AFR][1000 genomes]
rs72994205	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72994217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994222	0.98[AFR][1000 genomes]
rs72994229	0.90[AFR][1000 genomes]
rs73865798	0.88[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146262800-146268600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:146263200-146268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:146263200-146268000	Weak transcription	Osteobl	bone
4	chr3:146263200-146268200	Weak transcription	A549	lung
5	chr3:146263200-146268800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:146263200-146268800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:146263200-146270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:146263400-146268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:146263800-146271800	Weak transcription	K562	blood
10	chr3:146265000-146268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:146265200-146268000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:146265600-146268000	Weak transcription	HMEC	breast
13	chr3:146265600-146269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:146267000-146269000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:146267000-146269200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:146267000-146269200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:146267200-146271600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:146267400-146268000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:146267400-146268200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:146267400-146268600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:146267600-146268000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:146267600-146268000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:146267600-146268200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:146267600-146268200	Enhancers	Primary B cells from cord blood	blood
25	chr3:146267600-146268200	Enhancers	Liver	Liver
26	chr3:146267600-146268200	Enhancers	Duodenum Mucosa	Duodenum
27	chr3:146267600-146268200	Active TSS	Ovary	ovary
28	chr3:146267600-146268600	Active TSS	Colon Smooth Muscle	Colon
29	chr3:146267600-146269400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr3:146267600-146269600	Enhancers	GM12878-XiMat	blood
31	chr3:146267600-146270200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:146267600-146270200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:146267600-146270200	Enhancers	NHEK	skin
34	chr3:146267800-146268000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:146267800-146268000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:146267800-146268000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr3:146267800-146268000	Enhancers	NHDF-Ad	bronchial
38	chr3:146267800-146268000	Enhancers	NHLF	lung
39	chr3:146267800-146268200	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:146267800-146268200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:146267800-146268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:146267800-146268400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:146267800-146268400	Active TSS	Brain Hippocampus Middle	brain
44	chr3:146267800-146268400	Flanking Active TSS	Dnd41	blood
45	chr3:146267800-146268600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:146267800-146268600	Active TSS	Brain Anterior Caudate	brain
47	chr3:146267800-146268600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:146267800-146268800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:146267800-146268800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:146267800-146269000	Enhancers	Primary T helper cells PMA-I stimulated	--

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