Variant report

Variant	rs7199965
Chromosome Location	chr16:80614820-80614821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80613297..80615975-chr16:80617630..80621404,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11866835	0.93[EUR][1000 genomes]
rs12445526	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13330766	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4534859	0.90[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs4889162	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60897798	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6564765	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7186068	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7194176	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7199198	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7204803	0.94[EUR][1000 genomes]
rs7205206	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049444	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8063211	0.91[EUR][1000 genomes]
rs966671	0.81[CEU][hapmap]
rs9930879	0.84[EUR][1000 genomes]
rs9935465	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs9937215	0.85[CEU][hapmap];0.90[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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7199965	MON1B	cis	cerebellum	SCAN
rs7199965	TERF2IP	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80611800-80615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr16:80612000-80616200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:80612200-80615800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr16:80612200-80616000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr16:80612200-80618600	Weak transcription	Small Intestine	intestine
6	chr16:80613400-80615800	Enhancers	Primary T cells from cord blood	blood
7	chr16:80613800-80615200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:80613800-80615600	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:80614200-80615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:80614400-80615800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr16:80614400-80616600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:80614600-80615600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr16:80614600-80615600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:80614600-80615800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:80614600-80616000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr16:80614600-80616000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:80614800-80615800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr16:80614800-80617200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:80614800-80617200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:80614800-80617200	Weak transcription	NH-A	brain
21	chr16:80614800-80617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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