Variant report

Variant	rs73404717
Chromosome Location	chr15:42797272-42797273
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	chr15:42796777..42798973-chr15:42801252..42804391,3	K562	blood:
2	chr15:42782448..42784710-chr15:42797258..42800468,3	K562	blood:

Variant related genes	Relation type
ENSG00000092531	Chromatin interaction
ENSG00000103994	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10518766	0.91[EUR][1000 genomes]
rs1060293	0.80[EUR][1000 genomes]
rs11070376	0.90[AMR][1000 genomes]
rs12904010	0.90[AMR][1000 genomes]
rs16973320	0.91[EUR][1000 genomes]
rs17709377	0.82[EUR][1000 genomes]
rs17766532	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2899059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34359922	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924687	0.80[EUR][1000 genomes]
rs56982416	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58042601	0.80[EUR][1000 genomes]
rs58641431	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59705032	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60584955	0.91[EUR][1000 genomes]
rs60812675	0.80[EUR][1000 genomes]
rs60911842	0.97[AFR][1000 genomes]
rs61489160	0.80[EUR][1000 genomes]
rs7180483	0.91[EUR][1000 genomes]
rs73402783	0.81[EUR][1000 genomes]
rs73404714	0.91[EUR][1000 genomes]
rs73404723	0.85[EUR][1000 genomes]
rs73404730	0.91[EUR][1000 genomes]
rs73404763	0.83[EUR][1000 genomes]
rs73406518	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73406534	0.80[EUR][1000 genomes]
rs73406545	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr15:42788400-42808000	Weak transcription	Esophagus	oesophagus
2	chr15:42788600-42798400	Weak transcription	Ovary	ovary
3	chr15:42788600-42805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:42788600-42806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:42788600-42807200	Weak transcription	Fetal Kidney	kidney
6	chr15:42788800-42800400	Weak transcription	Fetal Lung	lung
7	chr15:42788800-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:42788800-42805400	Weak transcription	Brain Germinal Matrix	brain
9	chr15:42789000-42803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:42789000-42805400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:42789000-42806400	Weak transcription	Thymus	Thymus
12	chr15:42789200-42798400	Weak transcription	Primary T cells from cord blood	blood
13	chr15:42789200-42800600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:42789200-42802400	Weak transcription	Fetal Brain Female	brain
15	chr15:42789200-42804400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:42789200-42805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:42789200-42806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:42790400-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:42790600-42800200	Weak transcription	Psoas Muscle	Psoas
20	chr15:42790600-42805200	Weak transcription	Dnd41	blood
21	chr15:42790600-42806600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:42790600-42807200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:42790800-42798400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:42790800-42805000	Weak transcription	Fetal Thymus	thymus
25	chr15:42790800-42809800	Weak transcription	Spleen	Spleen
26	chr15:42790800-42810000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr15:42790800-42821400	Weak transcription	Right Ventricle	heart
28	chr15:42791200-42803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:42791200-42809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:42792200-42802400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:42792200-42803000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:42792200-42805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:42792400-42797400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:42792400-42798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:42792400-42798400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:42792400-42798400	Weak transcription	Gastric	stomach
37	chr15:42792400-42800400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:42792400-42802800	Weak transcription	NH-A	brain
39	chr15:42792400-42803400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:42792400-42804000	Weak transcription	NHEK	skin
41	chr15:42792400-42805400	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:42792400-42806600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:42792400-42807400	Weak transcription	HMEC	breast
44	chr15:42792600-42799600	Weak transcription	Fetal Heart	heart
45	chr15:42792600-42802800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:42792600-42805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:42792800-42800200	Weak transcription	Right Atrium	heart
48	chr15:42793000-42799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:42793000-42800000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:42793000-42809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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