Variant report

Variant	rs2822998
Chromosome Location	chr21:16363359-16363360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16358929..16361068-chr21:16362393..16365514,4	K562	blood:
2	chr21:16361349..16363526-chr21:16365374..16367228,2	MCF-7	breast:
3	chr21:16357446..16361068-chr21:16362396..16365704,5	K562	blood:
4	chr21:16361180..16365327-chr21:16366055..16368497,3	K562	blood:
5	chr21:16363309..16365664-chr21:16374179..16376018,2	K562	blood:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10482863	0.81[ASW][hapmap]
rs17241025	0.81[ASW][hapmap]
rs1997577	0.81[JPT][hapmap]
rs2026846	0.89[ASN][1000 genomes]
rs2822994	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822995	0.96[ASN][1000 genomes]
rs2823003	0.82[CHD][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
rs2822998	NRIP1	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
2	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
3	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
4	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
5	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
6	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
8	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:16340800-16375800	Weak transcription	Gastric	stomach
11	chr21:16340800-16375800	Weak transcription	Lung	lung
12	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr21:16347600-16364600	Weak transcription	Fetal Intestine Small	intestine
16	chr21:16352800-16368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:16354000-16368600	Weak transcription	Spleen	Spleen
18	chr21:16356400-16363400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:16356800-16367000	Weak transcription	NH-A	brain
20	chr21:16357000-16368600	Weak transcription	Fetal Kidney	kidney
21	chr21:16358600-16364800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:16359200-16363400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:16359200-16364600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:16359200-16364600	Strong transcription	Liver	Liver
26	chr21:16359400-16363600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr21:16359400-16364200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:16359600-16363800	Strong transcription	Dnd41	blood
29	chr21:16359600-16364200	Strong transcription	NHEK	skin
30	chr21:16359600-16365000	Strong transcription	Fetal Thymus	thymus
31	chr21:16359600-16366400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr21:16359800-16365600	Strong transcription	Primary B cells from cord blood	blood
33	chr21:16359800-16367400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:16360200-16364400	Weak transcription	Small Intestine	intestine
35	chr21:16360200-16374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
38	chr21:16360800-16373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:16361000-16363600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr21:16361000-16363600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr21:16361000-16364800	Genic enhancers	HepG2	liver
42	chr21:16361200-16363400	Enhancers	Ovary	ovary
43	chr21:16361200-16364000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:16361400-16364400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:16361600-16364400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:16361600-16364600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:16361600-16368200	Weak transcription	Left Ventricle	heart
48	chr21:16361600-16369000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:16361600-16370800	Weak transcription	Pancreas	Pancrea
50	chr21:16361600-16374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links