Variant report

Variant	rs4566130
Chromosome Location	chr15:40260208-40260209
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	chr15:40241327..40243052-chr15:40257933..40260324,2	K562	blood:

Variant related genes	Relation type
ENSG00000238564	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10459608	0.82[ASN][1000 genomes]
rs12441486	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12901892	0.83[GIH][hapmap]
rs1436276	0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1436278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1689605	0.94[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap]
rs16970030	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16970033	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16970098	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16970132	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16970168	0.82[JPT][hapmap]
rs2196470	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2279580	0.82[JPT][hapmap]
rs2291623	0.82[JPT][hapmap]
rs2307105	0.82[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2307106	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2307107	0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2640645	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28369403	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28619481	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2898974	0.82[JPT][hapmap]
rs35390951	0.80[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3765127	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs472027	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs479500	0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs503671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs509200	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs510949	0.82[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs514152	0.82[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs518802	0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs536503	0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs548091	0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7165105	0.85[GIH][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7170569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7174767	0.86[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72729459	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72729462	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72729469	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72729490	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72729494	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8029465	0.87[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8036381	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8036388	0.85[ASN][1000 genomes]
rs9888665	0.93[AMR][1000 genomes];0.83[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:40232000-40262600	Strong transcription	Liver	Liver
10	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
12	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40239400-40261200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:40239400-40262000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:40239600-40261400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40239800-40262200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr15:40240200-40261000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:40241400-40260800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
26	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:40245600-40262000	Strong transcription	HSMM	muscle
28	chr15:40246000-40261000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:40247400-40261800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:40248800-40264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:40250000-40263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:40250800-40265800	Weak transcription	K562	blood
36	chr15:40252800-40262200	Strong transcription	Osteobl	bone
37	chr15:40252800-40262800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:40253200-40260800	Strong transcription	HepG2	liver
41	chr15:40253200-40262200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr15:40253400-40261000	Strong transcription	NH-A	brain
44	chr15:40253400-40262000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:40253600-40262200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr15:40253800-40262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:40254000-40268400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:40254200-40262600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:40254600-40262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:40256400-40263400	Strong transcription	Primary T cells from cord blood	blood

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