Variant report

Variant	rs8045964
Chromosome Location	chr16:81816733-81816734
allele	C/T
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	POLR2A	chr16:81816374-81818124	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:81816234-81816782	GM12878	blood:	n/a	n/a
3	WRNIP1	chr16:81816652-81816784	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81816216..81818733-chr16:81825136..81827386,3	MCF-7	breast:
2	chr16:81815474..81817906-chr16:81818108..81820876,3	K562	blood:
3	chr16:81816161..81818114-chr16:81818804..81820876,2	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11642139	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11861147	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866195	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12934353	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281705	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4354929	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476174	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4480797	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4561462	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4577082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580154	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564920	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047206	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052218	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944386	0.82[EUR][1000 genomes]
rs9944387	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8045964	MBTPS1	cis	cerebellum	SCAN
rs8045964	MLYCD	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81813800-81817200	Weak transcription	Left Ventricle	heart
2	chr16:81813800-81817800	Weak transcription	Right Atrium	heart
3	chr16:81814000-81817200	Weak transcription	Liver	Liver
4	chr16:81814000-81817600	Weak transcription	Gastric	stomach
5	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81814400-81816800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr16:81814400-81817200	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
11	chr16:81814600-81818000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr16:81814800-81817800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:81814800-81818200	Enhancers	Primary hematopoietic stem cells	blood
14	chr16:81815200-81818600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:81815200-81830000	Weak transcription	Esophagus	oesophagus
16	chr16:81815400-81817000	Enhancers	Primary B cells from cord blood	blood
17	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
18	chr16:81815800-81816800	Flanking Active TSS	GM12878-XiMat	blood
19	chr16:81816000-81817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:81816000-81818400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr16:81816200-81817200	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:81816200-81817400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:81816400-81816800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:81816400-81816800	Enhancers	Brain Substantia Nigra	brain
25	chr16:81816400-81816800	Enhancers	Lung	lung
26	chr16:81816400-81818200	Enhancers	Fetal Intestine Large	intestine
27	chr16:81816400-81818200	Genic enhancers	Spleen	Spleen
28	chr16:81816400-81818800	Enhancers	Fetal Kidney	kidney
29	chr16:81816400-81819000	Enhancers	Small Intestine	intestine
30	chr16:81816400-81820200	Enhancers	Pancreas	Pancrea
31	chr16:81816400-81820400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:81816600-81816800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:81816600-81816800	Enhancers	Colonic Mucosa	Colon

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