Variant report

Variant	rs2898286
Chromosome Location	chr21:37790472-37790473
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	chr21:37786003..37787816-chr21:37790318..37792408,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56382962	0.81[EUR][1000 genomes]
rs67648865	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67850591	0.96[EUR][1000 genomes]
rs67986303	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68081676	0.96[EUR][1000 genomes]
rs7275524	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7279180	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754126	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
2	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
3	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
4	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
5	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
6	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr21:37758600-37794200	Weak transcription	Liver	Liver
10	chr21:37758600-37797600	Weak transcription	HSMM	muscle
11	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
14	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:37766000-37793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:37766800-37794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr21:37768400-37794000	Weak transcription	Psoas Muscle	Psoas
18	chr21:37770000-37794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:37773200-37792200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr21:37774600-37792400	Weak transcription	Fetal Brain Male	brain
21	chr21:37775600-37794800	Weak transcription	Right Atrium	heart
22	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr21:37776200-37794200	Weak transcription	NH-A	brain
24	chr21:37776200-37797400	Weak transcription	HSMMtube	muscle
25	chr21:37776400-37795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr21:37777800-37792000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr21:37777800-37792800	Strong transcription	Dnd41	blood
28	chr21:37780400-37791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:37780600-37791600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:37780800-37791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:37781400-37792400	Weak transcription	Placenta	Placenta
32	chr21:37782600-37790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:37783000-37790800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:37783000-37790800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:37783000-37790800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:37783800-37794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:37785600-37790800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:37786000-37792000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:37786000-37792400	Weak transcription	Ovary	ovary
40	chr21:37786000-37794400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr21:37786000-37795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:37786000-37801000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:37786200-37791600	Weak transcription	Fetal Lung	lung
44	chr21:37786400-37791600	Weak transcription	Brain Germinal Matrix	brain
45	chr21:37786400-37792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:37786400-37792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:37786400-37792400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:37786400-37801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:37786400-37801200	Weak transcription	NHEK	skin
50	chr21:37786600-37790800	Weak transcription	Fetal Brain Female	brain

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