Variant report

Variant	rs1008112
Chromosome Location	chr19:20009057-20009058
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	chr19:20006661-20013292	K562	blood:	n/a	n/a
2	POLR2A	chr19:20008286-20010469	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20002691..20004301-chr19:20008482..20010852,2	K562	blood:

Variant related genes	Relation type
ZNF93	TF binding region
ENSG00000267268	TF binding region
ENSG00000267565	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1019280	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10420011	0.86[CEU][hapmap]
rs10420124	0.87[CEU][hapmap]
rs10421280	0.86[CHB][hapmap]
rs11085283	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11666112	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11668581	0.81[EUR][1000 genomes]
rs12151060	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12460570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608906	0.83[EUR][1000 genomes]
rs12610295	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1860939	0.81[CEU][hapmap]
rs2080262	0.81[ASN][1000 genomes]
rs2080263	0.82[ASN][1000 genomes]
rs2080264	0.82[ASN][1000 genomes]
rs2110587	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2110589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335365	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2335888	0.81[CEU][hapmap]
rs2335889	0.81[CEU][hapmap]
rs2335892	0.81[CEU][hapmap]
rs258575	0.88[CEU][hapmap]
rs258579	0.88[CEU][hapmap]
rs4563152	0.81[CEU][hapmap]
rs4808221	0.83[CHB][hapmap]
rs4809005	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4809007	0.83[EUR][1000 genomes]
rs4809014	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs55739609	0.86[ASN][1000 genomes]
rs55816500	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57490026	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58151139	0.83[EUR][1000 genomes]
rs6511066	0.87[CEU][hapmap]
rs6511073	0.87[CEU][hapmap]
rs6511074	0.81[CEU][hapmap]
rs68000621	0.82[ASN][1000 genomes]
rs7254966	0.84[ASN][1000 genomes]
rs7255064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7256046	0.81[CEU][hapmap]
rs7258113	0.84[ASN][1000 genomes]
rs73008668	0.83[EUR][1000 genomes]
rs73008670	0.83[EUR][1000 genomes]
rs73532705	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8101213	0.81[CEU][hapmap]
rs8101714	0.82[ASN][1000 genomes]
rs8105482	0.87[CEU][hapmap]
rs8106847	0.86[CEU][hapmap]
rs8109457	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs8111124	0.81[EUR][1000 genomes]
rs8112738	0.81[CEU][hapmap]
rs9304965	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription 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	17 gene(s)	inside rSNPs	diseases
11	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
15	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
16	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
17	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1845482	chr19:20006144-20014389	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1008112	ZNF253	Cis_1M	lymphoblastoid	RTeQTL
rs1008112	ZNF253	cis	Heart Left Ventricle	GTEx
rs1008112	ZNF253	cis	Nerve Tibial	GTEx
rs1008112	ZNF506	Cis_1M	lymphoblastoid	RTeQTL
rs1008112	ZNF682	cis	Muscle Skeletal	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20002000-20010600	Weak transcription	Pancreas	Pancrea
2	chr19:20003200-20011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:20003600-20011000	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:20003600-20011000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:20003800-20011000	Weak transcription	Fetal Heart	heart
6	chr19:20004800-20011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:20007200-20010800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:20008400-20010800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:20008400-20010800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:20008600-20009400	Enhancers	Fetal Lung	lung
11	chr19:20009000-20009200	Enhancers	Rectal Smooth Muscle	rectum
12	chr19:20009000-20009800	Enhancers	Ovary	ovary
13	chr19:20009000-20010200	Enhancers	Dnd41	blood

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