Variant report

Variant	rs5744153
Chromosome Location	chr1:223307437-223307438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223296767..223297559-chr1:223306916..223307610,2	MCF-7	breast:
2	chr1:223301112..223303740-chr1:223305337..223308068,3	MCF-7	breast:
3	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:
4	chr1:223307136..223307654-chr1:223315610..223316598,3	K562	blood:
5	chr1:223306692..223307708-chr1:223871336..223872510,8	K562	blood:
6	chr1:223306168..223308719-chr1:223316086..223318176,3	MCF-7	breast:
7	chr1:223306279..223308015-chr1:223870177..223873121,2	MCF-7	breast:
8	chr1:223306782..223307651-chr1:223418331..223418857,2	K562	blood:
9	chr1:223305699..223307476-chr1:223314416..223316383,2	K562	blood:
10	chr1:223305679..223307985-chr1:223321092..223323680,2	K562	blood:
11	chr1:223307153..223307734-chr1:223417920..223418462,2	MCF-7	breast:
12	chr1:223305214..223307965-chr1:223314380..223316751,3	K562	blood:
13	chr1:223306774..223307641-chr1:223315920..223317157,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000143502	Chromatin interaction
ENSG00000236846	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11485986	1.00[EUR][1000 genomes]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[ASW][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1416691	1.00[EUR][1000 genomes]
rs2192616	1.00[EUR][1000 genomes]
rs2609375	1.00[EUR][1000 genomes]
rs2609376	1.00[EUR][1000 genomes]
rs3768284	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744151	1.00[TSI][hapmap]
rs61743732	1.00[EUR][1000 genomes]
rs6675057	1.00[EUR][1000 genomes]
rs74145600	1.00[EUR][1000 genomes]
rs851160	1.00[EUR][1000 genomes]
rs851211	1.00[TSI][hapmap]
rs851215	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223303200-223314600	Weak transcription	Spleen	Spleen
2	chr1:223306600-223307800	Enhancers	Liver	Liver
3	chr1:223306600-223308800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:223306600-223308800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:223306600-223310000	Enhancers	Lung	lung
6	chr1:223306800-223307600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:223306800-223307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:223306800-223307600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:223306800-223307600	Active TSS	Colon Smooth Muscle	Colon
10	chr1:223306800-223307800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr1:223306800-223307800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:223306800-223308600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:223306800-223310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:223306800-223310600	Enhancers	Esophagus	oesophagus
15	chr1:223307000-223307600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:223307000-223307600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:223307000-223307600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:223307000-223307600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:223307000-223307600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:223307000-223307600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:223307000-223307600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:223307000-223307600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr1:223307000-223307600	Active TSS	Fetal Heart	heart
24	chr1:223307000-223307600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:223307000-223307600	Bivalent/Poised TSS	A549	lung
26	chr1:223307000-223307800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:223307000-223307800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:223307000-223307800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:223307000-223307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:223307000-223307800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:223307000-223307800	Active TSS	Brain Angular Gyrus	brain
32	chr1:223307000-223307800	Active TSS	Brain Substantia Nigra	brain
33	chr1:223307000-223307800	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:223307000-223307800	Flanking Active TSS	NH-A	brain
35	chr1:223307000-223307800	Flanking Bivalent TSS/Enh	Osteobl	bone
36	chr1:223307000-223308000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:223307000-223308400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:223307200-223307600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:223307200-223307600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:223307200-223307600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:223307200-223307600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:223307200-223307600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:223307200-223307600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:223307200-223307600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:223307200-223307600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:223307200-223307600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:223307200-223307600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:223307200-223307600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:223307200-223307600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr1:223307200-223307600	Flanking Active TSS	Primary T cells from cord blood	blood

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