Variant report

Variant	rs8047417
Chromosome Location	chr16:81855713-81855714
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	chr16:81846967..81849391-chr16:81855617..81857822,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11150414	0.86[CEU][hapmap];0.88[CHB][hapmap]
rs12932436	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4322655	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4405545	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4429292	0.84[EUR][1000 genomes]
rs4559900	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5021608	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7200218	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9926920	0.85[ASN][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
rs8047417	PLCG2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81849000-81858800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
4	chr16:81852200-81856600	Weak transcription	Adipose Nuclei	Adipose
5	chr16:81852200-81856600	Weak transcription	Right Atrium	heart
6	chr16:81852600-81855800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:81852800-81856600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:81852800-81858200	Weak transcription	Lung	lung
9	chr16:81853600-81857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:81854400-81857600	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:81854600-81855800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr16:81854600-81856000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:81854600-81856200	Flanking Active TSS	GM12878-XiMat	blood
14	chr16:81854600-81857400	Enhancers	Fetal Thymus	thymus
15	chr16:81854600-81857600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:81854800-81856000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:81854800-81856000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr16:81854800-81857200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:81854800-81857200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:81854800-81857200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr16:81854800-81857200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr16:81855000-81855800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr16:81855000-81856000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:81855000-81857200	Enhancers	Fetal Muscle Leg	muscle
25	chr16:81855000-81857200	Enhancers	Spleen	Spleen
26	chr16:81855000-81857400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr16:81855200-81856400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:81855200-81858400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:81855400-81855800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr16:81855400-81856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:81855400-81856400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:81855400-81856400	Weak transcription	Placenta	Placenta
33	chr16:81855400-81856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:81855400-81856600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:81855400-81856600	Weak transcription	Fetal Lung	lung
36	chr16:81855400-81857400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:81855400-81858200	Weak transcription	Thymus	Thymus
38	chr16:81855600-81856000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr16:81855600-81856400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr16:81855600-81856400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr16:81855600-81856400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:81855600-81856600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr16:81855600-81856600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:81855600-81856600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:81855600-81856600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr16:81855600-81856800	Enhancers	Fetal Kidney	kidney
47	chr16:81855600-81865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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