Variant report

Variant	rs826221
Chromosome Location	chr3:24268436-24268437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24267731..24269750-chr3:24270517..24273185,2	K562	blood:
2	chr3:24267887..24270168-chr3:24274676..24277426,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs826219	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826223	0.92[MEX][hapmap];0.81[TSI][hapmap]
rs958893	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Systolic blood pressure in sickle cell anemia	24058526	GWAS catalog

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24251400-24279200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:24252400-24276400	Weak transcription	HepG2	liver
3	chr3:24257400-24274000	Weak transcription	Pancreas	Pancrea
4	chr3:24262000-24268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:24262200-24283200	Weak transcription	Fetal Stomach	stomach
6	chr3:24262600-24268600	Weak transcription	Lung	lung
7	chr3:24262600-24283200	Weak transcription	Left Ventricle	heart
8	chr3:24263000-24283000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:24263200-24273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:24264000-24275400	Weak transcription	Psoas Muscle	Psoas
11	chr3:24264600-24270600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:24264600-24276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:24264800-24268600	Weak transcription	Liver	Liver
14	chr3:24264800-24271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:24264800-24276400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:24265800-24268800	Enhancers	Fetal Lung	lung
17	chr3:24266000-24273600	Weak transcription	Gastric	stomach
18	chr3:24266400-24268800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:24266800-24268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:24267000-24268600	Weak transcription	Adipose Nuclei	Adipose
21	chr3:24267000-24271200	Weak transcription	Aorta	Aorta
22	chr3:24267000-24279000	Weak transcription	Brain Angular Gyrus	brain
23	chr3:24267000-24283000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:24267000-24283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:24267200-24274200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:24267200-24274600	Weak transcription	Esophagus	oesophagus
27	chr3:24267200-24276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:24267400-24276400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:24267400-24278600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:24268000-24271400	Strong transcription	Fetal Intestine Small	intestine
31	chr3:24268000-24272400	Strong transcription	Fetal Intestine Large	intestine
32	chr3:24268200-24268800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:24268200-24274000	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:24268200-24274000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:24268200-24278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:24268200-24291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:24268400-24268800	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:24268400-24268800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:24268400-24273200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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