Variant report

Variant	rs4312300
Chromosome Location	chr16:81812100-81812101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:81812097-81812436	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11643670	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935647	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401042	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4494534	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496135	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4500720	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4511521	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4587966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58271299	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195041	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7198191	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7198995	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7199605	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7499585	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9944386	0.84[AMR][1000 genomes]
rs9944387	0.84[AMR][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	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81792000-81812200	Weak transcription	Right Atrium	heart
2	chr16:81807200-81812200	Weak transcription	Adipose Nuclei	Adipose
3	chr16:81807600-81812400	Weak transcription	Left Ventricle	heart
4	chr16:81808800-81812400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:81809600-81812200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:81810200-81812200	Weak transcription	GM12878-XiMat	blood
7	chr16:81810400-81812200	Weak transcription	Placenta	Placenta
8	chr16:81811600-81812200	Enhancers	Primary B cells from cord blood	blood
9	chr16:81811800-81812400	Enhancers	Primary B cells from peripheral blood	blood
10	chr16:81811800-81812400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:81811800-81812400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:81811800-81813400	Active TSS	K562	blood
13	chr16:81812000-81812200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr16:81812000-81812200	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:81812000-81812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:81812000-81812200	Enhancers	Fetal Thymus	thymus
17	chr16:81812000-81812400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr16:81812000-81812400	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr16:81812000-81812400	Flanking Active TSS	A549	lung
20	chr16:81812000-81812400	Flanking Active TSS	Hela-S3	cervix
21	chr16:81812000-81812600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:81812000-81812600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr16:81812000-81812600	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr16:81812000-81813200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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