Variant report

Variant	rs11085508
Chromosome Location	chr19:22193986-22193987
allele	A/C
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	TAF1	chr19:22193763-22194026	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:22193231-22194007	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr19:22193770-22193986	GM12878	blood:	n/a	chr19:22193858-22193867
4	POLR2A	chr19:22193767-22193994	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr19:22193857-22194012	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ZNF208	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1036235	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10403779	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10410114	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410914	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10425763	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10426971	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11667684	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11668920	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12971688	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12975751	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12979885	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12980606	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1606063	0.84[EUR][1000 genomes]
rs1849005	0.87[EUR][1000 genomes]
rs1849007	0.88[EUR][1000 genomes]
rs1985744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2043318	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2099347	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2116895	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2136888	0.83[EUR][1000 genomes]
rs2158106	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175367	0.82[EUR][1000 genomes]
rs2188972	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs2214298	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2666441	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2666451	0.83[EUR][1000 genomes]
rs28456336	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28881618	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36033107	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs366849	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3752163	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs403997	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs417331	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs417947	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs424066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4244913	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4550595	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4932748	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4932953	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4932954	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs632709	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6511318	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511320	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7246619	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7254363	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7255666	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7258080	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7258192	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8105991	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8107039	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9304994	0.88[CEU][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv833785	chr19:22082143-22263312	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1058678	chr19:22084265-22288686	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1059225	chr19:22084265-22301003	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv2754060	chr19:22086241-22567144	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv432039	chr19:22086260-22704860	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3384540	chr19:22089182-22316805	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3326382	chr19:22112592-22509135	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	esv3392637	chr19:22135121-22332040	ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv961196	chr19:22142802-22258858	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv3514246	chr19:22145480-22348690	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS 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
15	esv3514247	chr19:22145480-22348690	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv3495704	chr19:22149379-22352547	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv3495705	chr19:22149379-22352547	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv469674	chr19:22154515-22344992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv436253	chr19:22188479-22385212	ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11085508	ZNF208	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22191400-22194000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr19:22191600-22194000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:22192200-22194000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr19:22192400-22194000	ZNF genes & repeats	Pancreas	Pancrea
5	chr19:22192600-22194000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:22192600-22194000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:22192600-22194000	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:22192600-22194000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:22192600-22194000	Active TSS	Adipose Nuclei	Adipose
10	chr19:22192600-22194000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr19:22192600-22194000	Active TSS	Left Ventricle	heart
12	chr19:22192600-22194000	Active TSS	Ovary	ovary
13	chr19:22192600-22194000	Active TSS	Placenta Amnion	Placenta Amnion
14	chr19:22192600-22194000	Active TSS	Right Atrium	heart
15	chr19:22192600-22194000	Active TSS	Stomach Smooth Muscle	stomach
16	chr19:22192600-22194200	Active TSS	Brain Hippocampus Middle	brain
17	chr19:22192600-22194200	Active TSS	Colon Smooth Muscle	Colon
18	chr19:22192800-22194000	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:22192800-22194000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
20	chr19:22192800-22194000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:22192800-22194000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr19:22193000-22194000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:22193200-22194000	Active TSS	Primary B cells from peripheral blood	blood
24	chr19:22193200-22194000	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr19:22193200-22194000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:22193200-22194000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:22193200-22194000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:22193200-22194000	Active TSS	Brain Substantia Nigra	brain
29	chr19:22193200-22194000	Active TSS	Rectal Smooth Muscle	rectum
30	chr19:22193200-22194200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr19:22193400-22194000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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