Variant report

Variant	rs1297215
Chromosome Location	chr21:16359460-16359461
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	chr21:16358423..16361021-chr21:16428563..16430076,2	K562	blood:
3	chr21:16358929..16361068-chr21:16362393..16365514,4	K562	blood:
4	chr21:16357446..16361068-chr21:16362396..16365704,5	K562	blood:

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

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

rs_ID	r²[population]
rs1810403	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2026846	0.81[AFR][1000 genomes]
rs2253231	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2253436	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2822998	0.86[JPT][hapmap]
rs2823000	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823001	0.92[CEU][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs6517151	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7280064	0.81[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
rs1297215	SAMSN1	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340600-16360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
3	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
5	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
6	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
7	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
8	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
9	chr21:16340800-16359600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr21:16340800-16359600	Weak transcription	Colonic Mucosa	Colon
11	chr21:16340800-16359600	Weak transcription	NHEK	skin
12	chr21:16340800-16360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:16340800-16361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:16340800-16361200	Weak transcription	Pancreas	Pancrea
15	chr21:16340800-16362600	Weak transcription	Thymus	Thymus
16	chr21:16340800-16362800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:16340800-16363000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:16340800-16363200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:16340800-16363200	Weak transcription	Psoas Muscle	Psoas
20	chr21:16340800-16368000	Weak transcription	HUVEC	blood vessel
21	chr21:16340800-16368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:16340800-16368600	Weak transcription	Esophagus	oesophagus
23	chr21:16340800-16373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:16340800-16374400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr21:16340800-16375800	Weak transcription	Gastric	stomach
26	chr21:16340800-16375800	Weak transcription	Lung	lung
27	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr21:16341200-16359600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:16341800-16360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:16342000-16362400	Weak transcription	NHLF	lung
33	chr21:16347000-16361000	Weak transcription	HMEC	breast
34	chr21:16347600-16364600	Weak transcription	Fetal Intestine Small	intestine
35	chr21:16348000-16361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:16349200-16361200	Weak transcription	Colon Smooth Muscle	Colon
37	chr21:16350600-16359600	Weak transcription	Fetal Thymus	thymus
38	chr21:16350600-16360000	Weak transcription	Osteobl	bone
39	chr21:16350600-16361600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr21:16351000-16361200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr21:16352400-16359600	Weak transcription	A549	lung
42	chr21:16352800-16368600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:16354000-16361200	Weak transcription	Left Ventricle	heart
44	chr21:16354000-16368600	Weak transcription	Spleen	Spleen
45	chr21:16354800-16359600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr21:16355400-16360000	Weak transcription	K562	blood
47	chr21:16356000-16361000	Weak transcription	HepG2	liver
48	chr21:16356400-16359800	Weak transcription	Brain Germinal Matrix	brain
49	chr21:16356400-16363400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr21:16356600-16359600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links