Variant report

Variant	rs2253436
Chromosome Location	chr21:16354124-16354125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16349146..16350792-chr21:16351626..16354549,2	K562	blood:
2	chr21:16348445..16350792-chr21:16351626..16354922,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1297215	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1810403	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2253231	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823000	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823001	0.96[CEU][hapmap];0.80[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517151	0.92[AMR][1000 genomes];0.98[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2253436	SAMSN1	cis	cerebellum	SCAN
rs2253436	C21orf81	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340400-16359400	Weak transcription	HSMMtube	muscle
2	chr21:16340600-16354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16340600-16359000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:16340600-16359400	Weak transcription	Placenta	Placenta
5	chr21:16340600-16360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
7	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
9	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
10	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
11	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
12	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
13	chr21:16340800-16355200	Weak transcription	Primary B cells from cord blood	blood
14	chr21:16340800-16356000	Weak transcription	Primary T cells from cord blood	blood
15	chr21:16340800-16356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:16340800-16358800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:16340800-16359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr21:16340800-16359600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:16340800-16359600	Weak transcription	Colonic Mucosa	Colon
20	chr21:16340800-16359600	Weak transcription	NHEK	skin
21	chr21:16340800-16360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:16340800-16361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:16340800-16361200	Weak transcription	Pancreas	Pancrea
24	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
25	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
29	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
30	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
32	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:16340800-16375800	Weak transcription	Gastric	stomach
35	chr21:16340800-16375800	Weak transcription	Lung	lung
36	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr21:16341000-16356200	Weak transcription	Fetal Kidney	kidney
38	chr21:16341200-16356000	Weak transcription	Adipose Nuclei	Adipose
39	chr21:16341200-16359400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr21:16341200-16359600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:16341400-16355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:16341400-16356000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:16341400-16356000	Weak transcription	Fetal Intestine Large	intestine
45	chr21:16341400-16356000	Weak transcription	Dnd41	blood
46	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr21:16341800-16360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:16342000-16354800	Weak transcription	K562	blood
49	chr21:16342000-16362400	Weak transcription	NHLF	lung
50	chr21:16345400-16356000	Weak transcription	Brain Germinal Matrix	brain

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