Variant report

Variant	rs11086099
Chromosome Location	chr19:18359408-18359409
allele	A/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	TEAD4	chr19:18359157-18359475	K562	blood:	n/a	n/a
2	CBX3	chr19:18359235-18359482	K562	blood:	n/a	n/a
3	CEBPD	chr19:18359065-18359585	K562	blood:	n/a	n/a
4	RCOR1	chr19:18359299-18359543	K562	blood:	n/a	n/a
5	ZMIZ1	chr19:18359309-18359442	K562	blood:	n/a	n/a
6	POLR2A	chr19:18359174-18359498	K562	blood:	n/a	n/a
7	EP300	chr19:18359279-18359477	K562	blood:	n/a	n/a
8	TAL1	chr19:18359146-18359512	K562	blood:	n/a	n/a
9	POLR2A	chr19:18358786-18359471	K562	blood:	n/a	n/a
10	CEBPD	chr19:18359199-18359536	K562	blood:	n/a	n/a
11	EGR1	chr19:18358897-18359450	K562	blood:	n/a	chr19:18359079-18359094 chr19:18359220-18359230 chr19:18359285-18359296

No.	Distal block	Cell Line	Cell type
1	chr19:18359047..18361096-chr19:18501038..18503469,2	K562	blood:
2	chr19:18223254..18225164-chr19:18359202..18360935,2	MCF-7	breast:
3	chr19:18357951..18359485-chr19:18364086..18366464,2	K562	blood:

Variant related genes	Relation type
PDE4C	TF binding region
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035363	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12459276	0.88[ASN][1000 genomes]
rs12460547	0.86[ASN][1000 genomes]
rs12461561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608744	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608843	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608869	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477269	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1477271	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172043	0.82[AMR][1000 genomes]
rs2287656	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287657	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384989	0.88[ASN][1000 genomes]
rs271829	0.81[AMR][1000 genomes]
rs271835	0.82[AMR][1000 genomes]
rs271836	0.82[AMR][1000 genomes]
rs35768432	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810432	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810433	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810434	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808771	0.85[AMR][1000 genomes]
rs4808776	0.88[ASN][1000 genomes]
rs58555271	0.88[ASN][1000 genomes]
rs60452015	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60609985	0.91[ASN][1000 genomes]
rs62120402	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72479531	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73523118	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73523119	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8105176	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8105503	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8109771	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8113654	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888666	0.85[AMR][1000 genomes]
rs999814	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs999815	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
9	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
10	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
15	nsv911265	chr19:18351674-18371197	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv911266	chr19:18351674-18375659	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
19	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
20	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11086099	KIAA1683	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18351800-18364800	Weak transcription	Colonic Mucosa	Colon
3	chr19:18352800-18363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:18353000-18362600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:18353200-18362600	Weak transcription	Stomach Mucosa	stomach
6	chr19:18358400-18359600	Enhancers	Fetal Heart	heart
7	chr19:18358800-18359600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr19:18358800-18359600	Enhancers	Fetal Stomach	stomach
9	chr19:18358800-18359600	Enhancers	K562	blood
10	chr19:18359200-18362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:18359200-18362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:18359200-18362800	Weak transcription	H1 Cell Line	embryonic stem cell

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