Variant report

Variant	rs7196161
Chromosome Location	chr16:31110981-31110982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
2	CTCF	chr16:31110880-31111030	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31100200..31102542-chr16:31110001..31111545,2	MCF-7	breast:
2	chr16:30968246..30969827-chr16:31109716..31111519,2	K562	blood:
3	chr16:31096486..31099181-chr16:31109176..31111486,2	MCF-7	breast:
4	chr16:31109918..31113931-chr16:31122507..31126831,4	MCF-7	breast:
5	chr16:31109802..31112036-chr16:31115940..31118854,2	K562	blood:
6	chr16:31106219..31108190-chr16:31108513..31111355,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255439	TF binding region
VKORC1	TF binding region
ENSG00000099381	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000167397	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1060506	0.95[ASN][1000 genomes]
rs10871454	0.85[ASN][1000 genomes]
rs1108431	0.89[ASN][1000 genomes]
rs11150604	0.89[ASN][1000 genomes]
rs11640767	0.86[ASN][1000 genomes]
rs11640957	0.86[ASN][1000 genomes]
rs11642003	0.82[ASN][1000 genomes]
rs11642192	0.98[ASN][1000 genomes]
rs11647284	1.00[ASN][1000 genomes]
rs11647442	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11862744	0.89[ASN][1000 genomes]
rs11864806	1.00[ASN][1000 genomes]
rs11864839	1.00[ASN][1000 genomes]
rs11865038	1.00[ASN][1000 genomes]
rs11865499	0.95[ASN][1000 genomes]
rs12445650	0.89[ASN][1000 genomes]
rs12448321	0.89[ASN][1000 genomes]
rs12597511	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716981	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716982	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12934418	0.89[ASN][1000 genomes]
rs14235	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549293	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17839567	0.89[ASN][1000 genomes]
rs17839568	1.00[ASN][1000 genomes]
rs1978485	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978487	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2032915	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288004	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303222	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303223	0.98[ASN][1000 genomes]
rs2359612	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855475	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28725459	0.91[ASN][1000 genomes]
rs28814987	1.00[ASN][1000 genomes]
rs2884738	0.95[ASN][1000 genomes]
rs34649473	0.85[ASN][1000 genomes]
rs35351013	0.93[ASN][1000 genomes]
rs35468353	0.89[ASN][1000 genomes]
rs35713203	1.00[ASN][1000 genomes]
rs3751855	1.00[ASN][1000 genomes]
rs4468641	1.00[ASN][1000 genomes]
rs4527034	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889530	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889619	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4889620	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55766044	0.95[ASN][1000 genomes]
rs55979739	0.89[ASN][1000 genomes]
rs56284083	0.89[ASN][1000 genomes]
rs56314408	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56813533	0.93[ASN][1000 genomes]
rs57434408	0.91[ASN][1000 genomes]
rs58726213	0.87[ASN][1000 genomes]
rs59061704	0.86[ASN][1000 genomes]
rs59735493	0.95[ASN][1000 genomes]
rs60996860	0.91[ASN][1000 genomes]
rs61162043	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61320757	0.95[ASN][1000 genomes]
rs6565217	1.00[ASN][1000 genomes]
rs7187995	0.93[ASN][1000 genomes]
rs7196726	1.00[ASN][1000 genomes]
rs7197717	1.00[ASN][1000 genomes]
rs7199949	1.00[ASN][1000 genomes]
rs7294	1.00[ASN][1000 genomes]
rs732172	0.89[ASN][1000 genomes]
rs732173	0.89[ASN][1000 genomes]
rs73530203	0.98[ASN][1000 genomes]
rs749670	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749671	1.00[ASN][1000 genomes]
rs749767	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7500176	0.89[ASN][1000 genomes]
rs750952	1.00[ASN][1000 genomes]
rs8047803	1.00[ASN][1000 genomes]
rs8050894	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056842	0.89[ASN][1000 genomes]
rs8061047	0.93[ASN][1000 genomes]
rs881929	1.00[ASN][1000 genomes]
rs889548	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs889555	0.95[ASN][1000 genomes]
rs9923231	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925964	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929899	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9934438	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936329	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939417	0.89[ASN][1000 genomes]
rs9939558	0.89[ASN][1000 genomes]
rs9972727	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7196161	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs7196161	HSD3B7	cis	Whole Blood	GTEx
rs7196161	BCKDK	cis	brain	BrainEAC
rs7196161	KAT8	cis	Artery Tibial	GTEx
rs7196161	KAT8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31106800-31117200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31107200-31111400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:31107400-31111200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:31107400-31111200	Weak transcription	K562	blood
5	chr16:31107400-31111400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:31107400-31117200	Weak transcription	NHLF	lung
7	chr16:31107600-31111600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:31110000-31111800	Weak transcription	Osteobl	bone
9	chr16:31110600-31111400	Weak transcription	Esophagus	oesophagus

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