Variant report

Variant	rs1009312
Chromosome Location	chr17:45332140-45332141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45331567..45334832-chr17:45348369..45350446,3	K562	blood:
2	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10438781	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10438782	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871251	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182248	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34492688	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35069360	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35125273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35439279	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35704663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144744	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144745	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144746	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541130	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55677902	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55827077	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504789	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504790	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66738981	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67080286	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67544603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67615769	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67923812	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208055	0.81[EUR][1000 genomes]
rs7208170	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210182	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211563	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218773	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7222617	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7223003	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223766	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823474	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
2	chr17:45330600-45332200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:45330600-45332200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr17:45330600-45332200	Flanking Bivalent TSS/Enh	Dnd41	blood
5	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
9	chr17:45330800-45332200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:45330800-45332200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr17:45330800-45332200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:45330800-45332200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:45330800-45332200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:45330800-45332200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45330800-45332200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:45330800-45332200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr17:45330800-45332400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr17:45330800-45332400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr17:45330800-45332400	Active TSS	Aorta	Aorta
20	chr17:45330800-45332400	Active TSS	NHDF-Ad	bronchial
21	chr17:45330800-45332400	Active TSS	NHLF	lung
22	chr17:45330800-45333400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45331000-45332200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:45331000-45332200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:45331000-45332200	Active TSS	Small Intestine	intestine
26	chr17:45331000-45332200	Active TSS	NH-A	brain
27	chr17:45331000-45332400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:45331000-45333000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:45331000-45333000	Active TSS	Colon Smooth Muscle	Colon
30	chr17:45331200-45332200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:45331200-45332200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:45331200-45332200	Flanking Active TSS	Liver	Liver
33	chr17:45331200-45332200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr17:45331400-45332200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:45331400-45332200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr17:45331400-45332200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr17:45331400-45332200	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr17:45331600-45332200	Flanking Active TSS	Esophagus	oesophagus
48	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr17:45331600-45332200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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