Variant report

Variant	rs2822995
Chromosome Location	chr21:16361374-16361375
allele	C/T
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	chr21:16361349..16363526-chr21:16365374..16367228,2	MCF-7	breast:
3	chr21:16361180..16365327-chr21:16366055..16368497,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1997577	0.91[JPT][hapmap]
rs2026846	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2822994	1.00[ASN][1000 genomes]
rs2822998	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2823017	0.81[JPT][hapmap]
rs7280064	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
2	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
3	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
4	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
5	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
6	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
7	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
11	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
12	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
14	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr21:16340800-16375800	Weak transcription	Gastric	stomach
17	chr21:16340800-16375800	Weak transcription	Lung	lung
18	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:16342000-16362400	Weak transcription	NHLF	lung
22	chr21:16347600-16364600	Weak transcription	Fetal Intestine Small	intestine
23	chr21:16350600-16361600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:16352800-16368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:16354000-16368600	Weak transcription	Spleen	Spleen
26	chr21:16356400-16363400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr21:16356600-16362200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr21:16356800-16361400	Weak transcription	Fetal Lung	lung
29	chr21:16356800-16367000	Weak transcription	NH-A	brain
30	chr21:16357000-16368600	Weak transcription	Fetal Kidney	kidney
31	chr21:16358600-16361800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr21:16358600-16362000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:16358600-16364800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:16358800-16361800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr21:16359200-16361800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr21:16359200-16363400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:16359200-16364600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:16359200-16364600	Strong transcription	Liver	Liver
40	chr21:16359400-16361400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:16359400-16361600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr21:16359400-16361600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:16359400-16362000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr21:16359400-16363200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:16359400-16363600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr21:16359400-16364200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:16359600-16361600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:16359600-16361600	Strong transcription	A549	lung
49	chr21:16359600-16362000	Strong transcription	Primary T cells from cord blood	blood
50	chr21:16359600-16362000	Strong transcription	Colonic Mucosa	Colon

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