Variant report

Variant	rs9982630
Chromosome Location	chr21:17252917-17252918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11909322	1.00[AMR][1000 genomes]
rs11909953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12106439	0.95[AFR][1000 genomes]
rs17241402	0.84[CHB][hapmap]
rs17307156	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs2183553	0.93[ASN][1000 genomes]
rs2823464	0.81[CHB][hapmap]
rs2823477	0.92[CHB][hapmap]
rs2823479	0.92[CHB][hapmap]
rs2823480	0.92[CHB][hapmap]
rs2823487	0.92[CHB][hapmap]
rs2823488	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs28417441	0.95[AFR][1000 genomes]
rs28484960	0.94[ASN][1000 genomes]
rs28553297	0.94[ASN][1000 genomes]
rs28691102	0.95[AFR][1000 genomes]
rs55804442	0.82[ASN][1000 genomes]
rs60174740	0.82[ASN][1000 genomes]
rs6517612	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs73348818	1.00[ASN][1000 genomes]
rs7364033	0.80[YRI][hapmap]
rs73892561	1.00[ASN][1000 genomes]
rs8130607	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs8132755	0.94[ASN][1000 genomes]
rs926612	0.85[CHD][hapmap]
rs9305754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9975374	0.91[ASN][1000 genomes]
rs9977019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9980591	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9984651	0.90[ASN][1000 genomes]
rs9985029	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
2	chr21:17223000-17257200	Weak transcription	NHLF	lung
3	chr21:17223600-17264400	Weak transcription	NHEK	skin
4	chr21:17228200-17256800	Weak transcription	Small Intestine	intestine
5	chr21:17233400-17256600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:17235200-17255600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr21:17236400-17253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:17236600-17254600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr21:17237000-17254400	Strong transcription	Placenta	Placenta
10	chr21:17245400-17253400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:17245400-17254400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:17245400-17255400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:17245400-17255600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:17245400-17270400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr21:17245600-17253400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr21:17245600-17254200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr21:17245600-17255400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:17245800-17253000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:17245800-17257600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:17246200-17256600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:17246200-17261600	Weak transcription	Right Ventricle	heart
22	chr21:17246400-17263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:17247600-17254800	Weak transcription	Colonic Mucosa	Colon
24	chr21:17248200-17253400	Strong transcription	HUVEC	blood vessel
25	chr21:17248200-17254400	Weak transcription	HepG2	liver
26	chr21:17248200-17262400	Weak transcription	Pancreas	Pancrea
27	chr21:17248400-17255000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr21:17249000-17254600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr21:17250000-17253400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr21:17250400-17253200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:17251200-17253000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:17251400-17256800	Weak transcription	K562	blood
33	chr21:17251400-17259000	Weak transcription	NHDF-Ad	bronchial
34	chr21:17252000-17253000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:17252000-17253200	ZNF genes & repeats	Dnd41	blood
36	chr21:17252000-17255400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:17252200-17253200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:17252200-17253400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:17252200-17253400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:17252200-17253800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr21:17252200-17253800	Strong transcription	HMEC	breast
42	chr21:17252200-17264600	Weak transcription	Hela-S3	cervix
43	chr21:17252400-17253200	Strong transcription	NH-A	brain
44	chr21:17252400-17253800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr21:17252600-17253000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr21:17252600-17253000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:17252600-17253000	ZNF genes & repeats	Aorta	Aorta
48	chr21:17252600-17253200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:17252600-17253200	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr21:17252600-17253200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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