Variant report

Variant	rs73327190
Chromosome Location	chr17:45284684-45284685
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	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
2	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11570469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11869037	1.00[AFR][1000 genomes]
rs57661742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226301	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	1.00[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	0.87[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle
2	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
3	chr17:45281400-45285000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr17:45282600-45286000	Enhancers	K562	blood
5	chr17:45282600-45287400	Weak transcription	Lung	lung
6	chr17:45282800-45285600	Weak transcription	Spleen	Spleen
7	chr17:45282800-45285800	Enhancers	Fetal Heart	heart
8	chr17:45283000-45284800	Enhancers	HSMMtube	muscle
9	chr17:45283000-45285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr17:45283000-45285400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr17:45283000-45285400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:45283000-45285600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:45283000-45285800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:45283000-45286200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:45283000-45287400	Weak transcription	Fetal Lung	lung
16	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:45283200-45285000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:45283200-45285000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr17:45283200-45285000	Enhancers	Right Atrium	heart
20	chr17:45283200-45286000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45283400-45284800	Enhancers	Duodenum Mucosa	Duodenum
22	chr17:45283400-45285000	Enhancers	Primary T cells from cord blood	blood
23	chr17:45283400-45285000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:45283400-45285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr17:45283400-45285600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:45283400-45285800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:45283400-45286000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:45283400-45286000	Weak transcription	Fetal Stomach	stomach
29	chr17:45283400-45286000	Weak transcription	Left Ventricle	heart
30	chr17:45283400-45286000	Weak transcription	Right Ventricle	heart
31	chr17:45283400-45286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:45283400-45287000	Enhancers	Primary B cells from cord blood	blood
33	chr17:45283400-45287000	Enhancers	Primary B cells from peripheral blood	blood
34	chr17:45283400-45287400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:45283400-45287600	Weak transcription	Psoas Muscle	Psoas
36	chr17:45283400-45287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:45283400-45288000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:45283600-45286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:45283600-45286200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr17:45283600-45286400	Weak transcription	Fetal Brain Male	brain
41	chr17:45283600-45286600	Enhancers	GM12878-XiMat	blood
42	chr17:45283600-45287800	Weak transcription	Osteobl	bone
43	chr17:45283800-45286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:45283800-45286200	Weak transcription	NHDF-Ad	bronchial
45	chr17:45284000-45285000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:45284000-45286000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:45284000-45286000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:45284200-45284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr17:45284200-45285800	Weak transcription	HSMM	muscle
50	chr17:45284200-45286200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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