Variant report

Variant	rs2822991
Chromosome Location	chr21:16353531-16353532
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	chr21:16349146..16350792-chr21:16351626..16354549,2	K562	blood:
2	chr21:16348445..16350792-chr21:16351626..16354922,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12483192	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12627409	0.86[CEU][hapmap];0.85[TSI][hapmap]
rs1474547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822992	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2822993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822996	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2822997	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822999	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2823004	0.93[CEU][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2823018	0.86[CEU][hapmap];0.85[TSI][hapmap]
rs62220715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220718	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7282245	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73170294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73172318	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs909388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2822991	SAMSN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16338200-16353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:16340400-16359400	Weak transcription	HSMMtube	muscle
3	chr21:16340600-16353600	Weak transcription	Spleen	Spleen
4	chr21:16340600-16354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:16340600-16359000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:16340600-16359400	Weak transcription	Placenta	Placenta
7	chr21:16340600-16360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
9	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
11	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
12	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
13	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
14	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
15	chr21:16340800-16355200	Weak transcription	Primary B cells from cord blood	blood
16	chr21:16340800-16356000	Weak transcription	Primary T cells from cord blood	blood
17	chr21:16340800-16356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:16340800-16358800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:16340800-16359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:16340800-16359600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr21:16340800-16359600	Weak transcription	Colonic Mucosa	Colon
22	chr21:16340800-16359600	Weak transcription	NHEK	skin
23	chr21:16340800-16360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr21:16340800-16361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:16340800-16361200	Weak transcription	Pancreas	Pancrea
26	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
27	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
31	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
32	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
34	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr21:16340800-16375800	Weak transcription	Gastric	stomach
37	chr21:16340800-16375800	Weak transcription	Lung	lung
38	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr21:16341000-16356200	Weak transcription	Fetal Kidney	kidney
40	chr21:16341200-16356000	Weak transcription	Adipose Nuclei	Adipose
41	chr21:16341200-16359400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr21:16341200-16359600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:16341400-16353600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:16341400-16355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:16341400-16356000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:16341400-16356000	Weak transcription	Fetal Intestine Large	intestine
48	chr21:16341400-16356000	Weak transcription	Dnd41	blood
49	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr21:16341800-16360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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