Variant report

Variant	rs2822994
Chromosome Location	chr21:16361057-16361058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16359064..16361925-chr21:16431797..16434375,2	K562	blood:
2	chr21:16358929..16361068-chr21:16362393..16365514,4	K562	blood:
3	chr21:16357446..16361068-chr21:16362396..16365704,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10482863	0.81[ASW][hapmap]
rs17241025	0.81[ASW][hapmap]
rs1997577	0.91[JPT][hapmap]
rs2026846	0.93[ASN][1000 genomes]
rs2822995	1.00[ASN][1000 genomes]
rs2822998	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823003	0.82[CHD][hapmap]
rs2823017	0.81[JPT][hapmap]
rs35324633	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7280064	0.84[CHD][hapmap];0.86[JPT][hapmap]

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
rs2822994	NRIP1	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
2	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
4	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
5	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
6	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
7	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
8	chr21:16340800-16361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:16340800-16361200	Weak transcription	Pancreas	Pancrea
10	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
11	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
15	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
16	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
18	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr21:16340800-16375800	Weak transcription	Gastric	stomach
21	chr21:16340800-16375800	Weak transcription	Lung	lung
22	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:16342000-16362400	Weak transcription	NHLF	lung
26	chr21:16347600-16364600	Weak transcription	Fetal Intestine Small	intestine
27	chr21:16348000-16361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:16349200-16361200	Weak transcription	Colon Smooth Muscle	Colon
29	chr21:16350600-16361600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr21:16351000-16361200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr21:16352800-16368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:16354000-16361200	Weak transcription	Left Ventricle	heart
33	chr21:16354000-16368600	Weak transcription	Spleen	Spleen
34	chr21:16356400-16363400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:16356600-16362200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr21:16356800-16361400	Weak transcription	Fetal Lung	lung
37	chr21:16356800-16367000	Weak transcription	NH-A	brain
38	chr21:16357000-16368600	Weak transcription	Fetal Kidney	kidney
39	chr21:16358000-16361200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:16358600-16361800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr21:16358600-16362000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr21:16358600-16364800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:16358800-16361800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr21:16359200-16361200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:16359200-16361800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr21:16359200-16363400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:16359200-16364600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:16359200-16364600	Strong transcription	Liver	Liver
50	chr21:16359400-16361400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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