Variant report

Variant	rs2822999
Chromosome Location	chr21:16364756-16364757
allele	G/T
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	chr21:16357446..16361068-chr21:16362396..16365704,5	K562	blood:
3	chr21:16361180..16365327-chr21:16366055..16368497,3	K562	blood:
4	chr21:16363309..16365664-chr21:16374179..16376018,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF127577.1-2	chr21:16364555-16365175	ENSG00000231201.1

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12483192	0.84[EUR][1000 genomes]
rs1474547	0.88[EUR][1000 genomes]
rs2822989	0.88[EUR][1000 genomes]
rs2822990	0.88[EUR][1000 genomes]
rs2822991	0.88[EUR][1000 genomes]
rs2822992	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822993	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs2822996	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822997	0.86[EUR][1000 genomes]
rs2823004	0.83[EUR][1000 genomes]
rs62220715	0.88[EUR][1000 genomes]
rs62220718	0.81[EUR][1000 genomes]
rs7282245	0.82[EUR][1000 genomes]
rs73170294	0.88[EUR][1000 genomes]
rs909388	0.88[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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

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	chr21:16352800-16368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:16354000-16368600	Weak transcription	Spleen	Spleen
17	chr21:16356800-16367000	Weak transcription	NH-A	brain
18	chr21:16357000-16368600	Weak transcription	Fetal Kidney	kidney
19	chr21:16358600-16364800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:16359600-16365000	Strong transcription	Fetal Thymus	thymus
22	chr21:16359600-16366400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:16359800-16365600	Strong transcription	Primary B cells from cord blood	blood
24	chr21:16359800-16367400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:16360200-16374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
28	chr21:16360800-16373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:16361000-16364800	Genic enhancers	HepG2	liver
30	chr21:16361600-16368200	Weak transcription	Left Ventricle	heart
31	chr21:16361600-16369000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:16361600-16370800	Weak transcription	Pancreas	Pancrea
33	chr21:16361600-16374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:16361800-16367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:16361800-16367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:16361800-16372600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr21:16361800-16374000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr21:16361800-16375800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr21:16362000-16364800	Strong transcription	Fetal Intestine Large	intestine
40	chr21:16362000-16365800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:16362000-16367400	Weak transcription	Brain Substantia Nigra	brain
42	chr21:16362000-16367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr21:16362000-16370800	Weak transcription	Colonic Mucosa	Colon
44	chr21:16362200-16365000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr21:16362200-16365600	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr21:16362200-16365800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:16362200-16367000	Weak transcription	Fetal Lung	lung
48	chr21:16362200-16368000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:16362200-16373400	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:16362200-16377600	Weak transcription	Fetal Stomach	stomach

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