Variant report

Variant	rs4819341
Chromosome Location	chr21:45326939-45326940
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45317264..45322147-chr21:45323792..45330212,11	K562	blood:
2	chr21:45278596..45280417-chr21:45324857..45327468,2	K562	blood:
3	chr21:45324387..45327703-chr21:45346695..45349157,3	MCF-7	breast:
4	chr21:45326835..45328852-chr21:45330580..45332384,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11700575	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070546	0.84[ASN][1000 genomes]
rs2070548	0.84[ASN][1000 genomes]
rs2070549	0.83[ASN][1000 genomes]
rs2838433	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838434	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788075	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3788082	0.83[ASN][1000 genomes]
rs4819337	0.82[AMR][1000 genomes]
rs4819338	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4819339	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58565118	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59355960	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60216010	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60316193	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7278539	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73226931	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9647250	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975713	0.86[ASN][1000 genomes]
rs9983066	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv19383	chr21:45326239-45334057	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:45305000-45328000	Weak transcription	NHEK	skin
4	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:45305200-45327600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:45314000-45330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:45314400-45332000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:45314800-45329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr21:45314800-45336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:45316600-45336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:45319200-45328400	Weak transcription	A549	lung
13	chr21:45319400-45328800	Weak transcription	HepG2	liver
14	chr21:45319600-45331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:45319800-45331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45319800-45331800	Weak transcription	Brain Germinal Matrix	brain
17	chr21:45320000-45332400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr21:45321000-45327800	Weak transcription	Brain Anterior Caudate	brain
19	chr21:45321000-45331400	Weak transcription	Brain Substantia Nigra	brain
20	chr21:45322600-45328000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr21:45323000-45331800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:45323200-45328200	Weak transcription	Brain Angular Gyrus	brain
23	chr21:45323200-45332400	Weak transcription	Hela-S3	cervix
24	chr21:45323400-45328400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr21:45323400-45328800	Strong transcription	Primary T cells from cord blood	blood
26	chr21:45323400-45329200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:45323600-45327000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:45323600-45327800	Strong transcription	Fetal Intestine Small	intestine
29	chr21:45323600-45327800	Weak transcription	Stomach Mucosa	stomach
30	chr21:45323600-45328600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:45323600-45331800	Strong transcription	Fetal Stomach	stomach
32	chr21:45323800-45327000	Strong transcription	Dnd41	blood
33	chr21:45323800-45327400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:45323800-45328800	Strong transcription	Thymus	Thymus
35	chr21:45323800-45329600	Weak transcription	Small Intestine	intestine
36	chr21:45323800-45332000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr21:45323800-45332400	Weak transcription	HUVEC	blood vessel
38	chr21:45324000-45327600	Weak transcription	Adipose Nuclei	Adipose
39	chr21:45324000-45327800	Weak transcription	Fetal Heart	heart
40	chr21:45324000-45327800	Weak transcription	Gastric	stomach
41	chr21:45324000-45328400	Weak transcription	Fetal Lung	lung
42	chr21:45324000-45336000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:45324200-45328000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr21:45324200-45328000	Strong transcription	Esophagus	oesophagus
45	chr21:45324200-45328800	Strong transcription	Rectal Smooth Muscle	rectum
46	chr21:45324200-45332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:45324400-45327200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45324400-45327800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr21:45324400-45328800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr21:45324400-45331400	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links