Variant report

Variant	rs2838453
Chromosome Location	chr21:45383903-45383904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45377181..45380868-chr21:45381131..45384623,4	K562	blood:
2	chr21:45381778..45384754-chr21:45391171..45392766,2	K562	blood:
3	chr21:45374823..45379974-chr21:45380727..45386042,6	K562	blood:
4	chr21:45373248..45376650-chr21:45380106..45384275,6	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2000787	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838452	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838454	0.96[ASN][1000 genomes]
rs3737358	0.84[ASN][1000 genomes]
rs57209759	0.88[EUR][1000 genomes]
rs6518340	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6518342	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276691	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283150	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73373134	0.84[ASN][1000 genomes]
rs73906701	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr21:45369400-45388800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45370000-45384000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
6	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
7	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45377000-45398400	Weak transcription	A549	lung
9	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:45377200-45389000	Weak transcription	Psoas Muscle	Psoas
11	chr21:45378000-45390200	Weak transcription	Primary B cells from cord blood	blood
12	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:45378200-45403800	Strong transcription	Dnd41	blood
14	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr21:45378600-45392800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:45378600-45394800	Weak transcription	Fetal Brain Male	brain
17	chr21:45378600-45400800	Weak transcription	NH-A	brain
18	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
20	chr21:45379000-45392400	Strong transcription	Fetal Stomach	stomach
21	chr21:45379000-45393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr21:45379200-45384000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:45379200-45385200	Weak transcription	Fetal Heart	heart
25	chr21:45379400-45384000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45379400-45384800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:45379400-45386000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:45379400-45386800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
30	chr21:45379800-45388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:45380200-45386600	Weak transcription	Brain Germinal Matrix	brain
32	chr21:45380200-45395000	Weak transcription	HMEC	breast
33	chr21:45380400-45385000	Weak transcription	Thymus	Thymus
34	chr21:45380400-45385800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr21:45380400-45387600	Weak transcription	NHLF	lung
36	chr21:45380400-45391800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr21:45380600-45385000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:45380600-45385200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr21:45380600-45386000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:45381400-45386000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr21:45381400-45388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:45381600-45386000	Weak transcription	Colonic Mucosa	Colon
44	chr21:45381600-45386000	Weak transcription	Esophagus	oesophagus
45	chr21:45381600-45387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:45381600-45387400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr21:45381600-45388800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:45381600-45388800	Weak transcription	Brain Angular Gyrus	brain
49	chr21:45381600-45390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:45381600-45392200	Weak transcription	HSMM	muscle

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