Variant report

Variant	rs17320570
Chromosome Location	chr3:43286582-43286583
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43286357..43288077-chr3:43294555..43297435,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1317402	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320160	0.98[EUR][1000 genomes]
rs1320161	0.98[EUR][1000 genomes]
rs1320162	0.98[EUR][1000 genomes]
rs1320163	0.98[EUR][1000 genomes]
rs17075328	0.95[EUR][1000 genomes]
rs17075415	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17254504	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17254786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17405916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1996497	0.98[EUR][1000 genomes]
rs2372350	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372351	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372360	0.97[EUR][1000 genomes]
rs2372361	0.98[EUR][1000 genomes]
rs4504148	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55836177	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55919553	0.98[EUR][1000 genomes]
rs55988644	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55990908	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56032317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56053383	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56291522	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56412846	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56745072	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757985	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504881	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60971695	0.98[EUR][1000 genomes]
rs6766079	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767019	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6791341	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791526	0.96[EUR][1000 genomes]
rs6796424	0.96[EUR][1000 genomes]
rs6801151	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072912	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73072920	0.98[EUR][1000 genomes]
rs73086702	0.95[EUR][1000 genomes]
rs73088703	0.95[EUR][1000 genomes]
rs73088726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088738	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088748	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088757	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829200	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633546	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634209	0.95[EUR][1000 genomes]
rs7641590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7646966	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284200-43289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr3:43284400-43288400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:43284400-43289800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr3:43284400-43290000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr3:43284400-43290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr3:43284400-43290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:43284600-43287400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:43284600-43289400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr3:43284600-43290000	Enhancers	Primary T cells from cord blood	blood
11	chr3:43284800-43289400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:43285000-43288000	Enhancers	HUVEC	blood vessel
13	chr3:43285000-43289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:43285000-43289600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:43285200-43286600	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:43285200-43286800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:43285200-43286800	Enhancers	Psoas Muscle	Psoas
18	chr3:43285200-43290000	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:43285400-43290000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:43285600-43287200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:43285600-43290800	Enhancers	Adipose Nuclei	Adipose
22	chr3:43285800-43288400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:43285800-43289200	Weak transcription	Lung	lung
24	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
25	chr3:43286000-43287200	Weak transcription	Thymus	Thymus
26	chr3:43286000-43288000	Weak transcription	Fetal Thymus	thymus
27	chr3:43286000-43289600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:43286000-43289800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:43286200-43286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:43286200-43288200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:43286200-43290000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:43286400-43287800	Weak transcription	Spleen	Spleen
33	chr3:43286400-43288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:43286400-43288000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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