Variant report

Variant	rs4429292
Chromosome Location	chr16:81852991-81852992
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81851613..81854068-chr16:81882143..81884584,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12932436	0.84[EUR][1000 genomes]
rs4243216	0.84[EUR][1000 genomes]
rs4322655	0.84[EUR][1000 genomes]
rs4405545	0.83[EUR][1000 genomes]
rs4559900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5021608	0.83[EUR][1000 genomes]
rs7200218	0.83[EUR][1000 genomes]
rs8047417	0.84[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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4429292	PLCG2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81848800-81853400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr16:81849000-81858800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:81849200-81854600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:81849400-81854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:81849400-81854800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:81849400-81854800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:81849400-81855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:81849400-81855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:81849400-81855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:81849400-81855600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:81850600-81855400	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
14	chr16:81851600-81853000	Enhancers	Spleen	Spleen
15	chr16:81851600-81854000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:81851600-81855000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81851800-81853200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr16:81852000-81853200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81852000-81853200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81852000-81855400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:81852200-81853000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81852200-81853800	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr16:81852200-81854600	Enhancers	Primary B cells from cord blood	blood
24	chr16:81852200-81855000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr16:81852200-81856600	Weak transcription	Adipose Nuclei	Adipose
26	chr16:81852200-81856600	Weak transcription	Right Atrium	heart
27	chr16:81852400-81853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:81852400-81854400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:81852400-81854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:81852400-81854800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:81852400-81855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:81852400-81855200	Weak transcription	Thymus	Thymus
33	chr16:81852600-81854200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81852600-81855800	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:81852800-81854600	Weak transcription	Fetal Thymus	thymus
36	chr16:81852800-81854600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr16:81852800-81856600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:81852800-81858200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links