Variant report

Variant	rs56291522
Chromosome Location	chr3:43291099-43291100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43289737..43291817-chr3:43339501..43341574,2	K562	blood:
2	chr3:43264830..43267326-chr3:43290444..43292682,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1317402	0.88[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	0.99[EUR][1000 genomes]
rs17254504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17254786	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17320570	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17405916	0.87[EUR][1000 genomes]
rs1996497	0.98[EUR][1000 genomes]
rs2372350	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372360	0.97[EUR][1000 genomes]
rs2372361	0.98[EUR][1000 genomes]
rs4504148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650554	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55836177	0.84[EUR][1000 genomes]
rs55919553	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55988644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55990908	0.98[EUR][1000 genomes]
rs56032317	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56053383	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56412846	0.99[EUR][1000 genomes]
rs56745072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757985	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504881	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60671097	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60971695	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6766079	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767019	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6791341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791526	0.96[EUR][1000 genomes]
rs6796424	0.96[EUR][1000 genomes]
rs6801151	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805108	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808396	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072908	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072912	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73072920	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086702	0.95[EUR][1000 genomes]
rs73088703	0.95[EUR][1000 genomes]
rs73088726	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088732	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088748	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088757	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829200	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634209	0.95[EUR][1000 genomes]
rs7641590	0.84[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43288600-43293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:43289400-43293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:43289800-43296400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:43290000-43292800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:43290000-43292800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:43290000-43292800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:43290000-43294200	Weak transcription	Fetal Stomach	stomach
11	chr3:43290000-43296400	Weak transcription	Lung	lung
12	chr3:43290200-43292600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:43290200-43292800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:43290200-43292800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:43290200-43292800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:43290400-43292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:43290400-43292800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:43290400-43293000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:43290400-43293800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:43290400-43294800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
22	chr3:43290800-43292800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:43290800-43294000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:43290800-43296600	Weak transcription	Spleen	Spleen
25	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain

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