Variant report

Variant	rs73316039
Chromosome Location	chr17:45280738-45280739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45273712..45279094-chr17:45279285..45284499,7	K562	blood:
2	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
3	chr17:45265176..45269287-chr17:45280012..45282931,4	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction
ENSG00000198336	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]
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]
rs73327190	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45268400-45281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:45270600-45281200	Weak transcription	Spleen	Spleen
3	chr17:45274800-45282200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45276000-45281000	Weak transcription	HSMMtube	muscle
5	chr17:45276400-45281000	Weak transcription	HSMM	muscle
6	chr17:45277800-45281000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:45277800-45281000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:45278000-45281000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr17:45278200-45281000	Weak transcription	Primary T cells from cord blood	blood
10	chr17:45278200-45281000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:45278200-45281000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:45278200-45281000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:45278200-45281000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:45278200-45281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:45278200-45281000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:45278200-45281000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr17:45278200-45281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:45278200-45281000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:45278200-45281000	Weak transcription	Adipose Nuclei	Adipose
20	chr17:45278200-45281000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:45278200-45281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:45278200-45281000	Weak transcription	Fetal Thymus	thymus
23	chr17:45278200-45281000	Weak transcription	K562	blood
24	chr17:45278200-45281200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:45278200-45282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:45278200-45282200	Weak transcription	Colonic Mucosa	Colon
27	chr17:45278200-45282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:45279000-45281000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:45279000-45281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:45279000-45282000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr17:45279000-45282200	Weak transcription	Stomach Mucosa	stomach
32	chr17:45279200-45280800	Weak transcription	Primary B cells from cord blood	blood
33	chr17:45279200-45281000	Weak transcription	Small Intestine	intestine
34	chr17:45279200-45282000	Weak transcription	Fetal Intestine Small	intestine
35	chr17:45279200-45282000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr17:45279400-45282200	Weak transcription	Fetal Intestine Large	intestine
37	chr17:45280000-45281000	Enhancers	GM12878-XiMat	blood
38	chr17:45280200-45281400	Weak transcription	Fetal Heart	heart
39	chr17:45280200-45282400	Enhancers	Primary B cells from peripheral blood	blood
40	chr17:45280400-45281200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr17:45280400-45282200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:45280400-45282600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:45280600-45281000	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:45280600-45282800	Enhancers	Dnd41	blood

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