Variant report

Variant	rs28705212
Chromosome Location	chr21:16348359-16348360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16348130..16350759-chr21:16437449..16439323,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28695679	1.00[AMR][1000 genomes]
rs58449654	1.00[AMR][1000 genomes]
rs61017534	1.00[AMR][1000 genomes]
rs73338820	1.00[AMR][1000 genomes]
rs73338822	1.00[AMR][1000 genomes]
rs9981346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983107	1.00[AMR][1000 genomes]
rs9983502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984529	1.00[AMR][1000 genomes]
rs9985093	1.00[AMR][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16336400-16351600	Weak transcription	Fetal Heart	heart
2	chr21:16338200-16353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:16340200-16349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:16340400-16351600	Weak transcription	Fetal Lung	lung
5	chr21:16340400-16359400	Weak transcription	HSMMtube	muscle
6	chr21:16340600-16349000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:16340600-16350200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:16340600-16350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:16340600-16350200	Weak transcription	Small Intestine	intestine
10	chr21:16340600-16351800	Weak transcription	Brain Substantia Nigra	brain
11	chr21:16340600-16353600	Weak transcription	Spleen	Spleen
12	chr21:16340600-16354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:16340600-16359000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:16340600-16359400	Weak transcription	Placenta	Placenta
15	chr21:16340600-16360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
17	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
19	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
20	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
21	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
22	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
23	chr21:16340800-16348800	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:16340800-16349000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr21:16340800-16349200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr21:16340800-16349400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:16340800-16350200	Weak transcription	Left Ventricle	heart
28	chr21:16340800-16351600	Weak transcription	Brain Hippocampus Middle	brain
29	chr21:16340800-16351600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:16340800-16352000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:16340800-16355200	Weak transcription	Primary B cells from cord blood	blood
32	chr21:16340800-16356000	Weak transcription	Primary T cells from cord blood	blood
33	chr21:16340800-16356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:16340800-16358800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:16340800-16359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:16340800-16359600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr21:16340800-16359600	Weak transcription	Colonic Mucosa	Colon
38	chr21:16340800-16359600	Weak transcription	NHEK	skin
39	chr21:16340800-16360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr21:16340800-16361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:16340800-16361200	Weak transcription	Pancreas	Pancrea
42	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
43	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
47	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
48	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
50	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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