Variant report

Variant	rs4243216
Chromosome Location	chr16:81850777-81850778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81849121..81851772-chr16:81861664..81863431,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11150414	0.87[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.80[TSI][hapmap];0.93[ASN][1000 genomes]
rs12932436	0.88[EUR][1000 genomes]
rs4322655	0.87[CEU][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4405545	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4429292	0.84[EUR][1000 genomes]
rs4559900	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5021608	0.87[EUR][1000 genomes]
rs7200218	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs8047417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806889	0.93[ASN][1000 genomes]
rs9806951	0.89[ASN][1000 genomes]
rs9806968	0.93[ASN][1000 genomes]
rs9807001	0.93[ASN][1000 genomes]
rs9930054	0.93[ASN][1000 genomes]
rs9937779	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1067307	chr16:81832031-81851736	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4243216	PLCG2	Cis_1M	lymphoblastoid	RTeQTL
rs4243216	KCNG4	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81838600-81851400	Weak transcription	Right Atrium	heart
2	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:81844800-81851400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:81847200-81852000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:81847400-81850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:81848600-81851800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr16:81848800-81853400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:81849000-81851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81849000-81852000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:81849000-81858800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:81849200-81851600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:81849200-81851800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:81849200-81854600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:81849400-81852000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:81849400-81854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:81849400-81854800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:81849400-81854800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:81849400-81855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:81849400-81855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:81849400-81855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:81849400-81855600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr16:81850400-81850800	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr16:81850400-81851000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81850400-81851800	Flanking Active TSS	GM12878-XiMat	blood
25	chr16:81850400-81852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:81850400-81852800	Enhancers	Fetal Thymus	thymus
27	chr16:81850400-81852800	Enhancers	Lung	lung
28	chr16:81850600-81850800	Enhancers	Esophagus	oesophagus
29	chr16:81850600-81851000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr16:81850600-81851000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr16:81850600-81851000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr16:81850600-81851000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr16:81850600-81851600	Weak transcription	Spleen	Spleen
34	chr16:81850600-81852200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr16:81850600-81852800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr16:81850600-81855400	Enhancers	Primary hematopoietic stem cells	blood

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