Variant report

Variant	rs17254786
Chromosome Location	chr3:43288627-43288628
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	chr3:43281582..43285022-chr3:43286584..43289819,3	K562	blood:
2	chr3:43287138..43289386-chr3:43291194..43294036,2	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	0.93[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	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs17075415	0.99[EUR][1000 genomes]
rs17254504	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17320570	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17405916	0.87[EUR][1000 genomes]
rs1996497	0.98[EUR][1000 genomes]
rs2372350	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372351	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372360	0.97[EUR][1000 genomes]
rs2372361	0.98[EUR][1000 genomes]
rs4504148	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650554	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55836177	0.84[EUR][1000 genomes]
rs55919553	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55988644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55990908	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56032317	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56053383	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56291522	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56412846	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56745072	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757985	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504881	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60971695	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6766079	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767019	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6791341	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791526	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs6796424	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs6801151	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805108	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808396	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072908	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072912	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73072920	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086702	0.95[EUR][1000 genomes]
rs73088703	0.95[EUR][1000 genomes]
rs73088726	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088748	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088757	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829200	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633546	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634209	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs7641590	0.89[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284200-43289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr3:43284400-43289800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr3:43284400-43290000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr3:43284400-43290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:43284400-43290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:43284600-43289400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:43284600-43290000	Enhancers	Primary T cells from cord blood	blood
9	chr3:43284800-43289400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:43285000-43289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:43285000-43289600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:43285200-43290000	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:43285400-43290000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:43285600-43290800	Enhancers	Adipose Nuclei	Adipose
15	chr3:43285800-43289200	Weak transcription	Lung	lung
16	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
17	chr3:43286000-43289600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:43286000-43289800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:43286200-43290000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:43286800-43289000	Weak transcription	Right Atrium	heart
21	chr3:43287000-43289800	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:43287200-43290000	Enhancers	Thymus	Thymus
23	chr3:43287600-43290400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:43287800-43290000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:43287800-43290400	Enhancers	Brain Hippocampus Middle	brain
26	chr3:43287800-43290400	Enhancers	Fetal Muscle Leg	muscle
27	chr3:43288000-43288800	Enhancers	Brain Anterior Caudate	brain
28	chr3:43288000-43289200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:43288000-43289200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:43288000-43289400	Enhancers	Fetal Thymus	thymus
31	chr3:43288000-43289800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:43288000-43290000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:43288000-43290000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:43288200-43289000	Enhancers	Small Intestine	intestine
35	chr3:43288200-43290000	Enhancers	Fetal Stomach	stomach
36	chr3:43288200-43290800	Enhancers	Stomach Smooth Muscle	stomach
37	chr3:43288400-43288800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:43288400-43289400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:43288400-43289400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:43288400-43289600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:43288400-43289600	Weak transcription	Spleen	Spleen
42	chr3:43288400-43289800	Weak transcription	Psoas Muscle	Psoas
43	chr3:43288400-43290000	Enhancers	Brain Germinal Matrix	brain
44	chr3:43288400-43290200	Enhancers	Rectal Smooth Muscle	rectum
45	chr3:43288400-43290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:43288400-43290400	Enhancers	Colon Smooth Muscle	Colon
47	chr3:43288600-43288800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:43288600-43288800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr3:43288600-43289000	Enhancers	HUVEC	blood vessel
50	chr3:43288600-43289200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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