Variant report

Variant	rs1063311
Chromosome Location	chr22:22116467-22116468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22113720..22119182-chr22:22217815..22224852,8	K562	blood:
2	chr22:22115036..22117824-chr22:22119373..22122086,2	MCF-7	breast:
3	chr22:22114665..22118629-chr22:22291531..22296432,6	K562	blood:
4	chr22:22115887..22117741-chr22:22205712..22207853,2	K562	blood:
5	chr22:22116046..22118494-chr22:22321132..22322757,2	K562	blood:

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11912377	0.87[EUR][1000 genomes]
rs11913721	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2266965	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2266966	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs28697123	0.88[EUR][1000 genomes]
rs28720995	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2876981	0.81[CEU][hapmap];0.89[TSI][hapmap]
rs4640486	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56036797	0.87[EUR][1000 genomes]
rs56227348	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5999749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs5999752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs62235132	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6518968	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7290469	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7292584	0.86[EUR][1000 genomes]
rs8138075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9340	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs9607241	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9607285	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9607298	0.87[EUR][1000 genomes]
rs9610271	0.85[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs9610294	0.90[ASN][1000 genomes]
rs9610314	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9610328	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9610338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9610374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9610375	0.82[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][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	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1063311	UFD1L	cis	cerebellum	SCAN
rs1063311	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs1063311	LZTR1	cis	cerebellum	SCAN
rs1063311	psiTPTE22	cis	parietal	SCAN
rs1063311	USP18	cis	cerebellum	SCAN
rs1063311	TSSK2	cis	parietal	SCAN
rs1063311	TOP3B	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:22109400-22125800	Weak transcription	Small Intestine	intestine
5	chr22:22109800-22117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:22110000-22117200	Weak transcription	Psoas Muscle	Psoas
7	chr22:22110200-22122600	Weak transcription	Fetal Brain Male	brain
8	chr22:22110400-22117400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:22110400-22123600	Strong transcription	Primary B cells from cord blood	blood
10	chr22:22110600-22126000	Weak transcription	Stomach Mucosa	stomach
11	chr22:22110600-22128400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
13	chr22:22110800-22117000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr22:22110800-22119400	Weak transcription	Hela-S3	cervix
15	chr22:22110800-22120800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:22110800-22121800	Strong transcription	Thymus	Thymus
17	chr22:22110800-22126600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr22:22111000-22116800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:22111000-22118000	Strong transcription	Fetal Thymus	thymus
20	chr22:22111000-22118200	Strong transcription	Primary T cells from cord blood	blood
21	chr22:22111000-22121000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:22111000-22127000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:22111200-22117600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:22111200-22117800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:22111200-22129200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:22111400-22126400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr22:22111400-22126800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr22:22111400-22128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:22111600-22117400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:22112400-22116600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr22:22112400-22136800	Strong transcription	Dnd41	blood
34	chr22:22112600-22117000	Strong transcription	Aorta	Aorta
35	chr22:22112600-22121000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:22112600-22123800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr22:22112600-22124800	Strong transcription	Left Ventricle	heart
38	chr22:22112600-22128200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:22112800-22126000	Strong transcription	Fetal Muscle Leg	muscle
40	chr22:22112800-22126600	Strong transcription	Adipose Nuclei	Adipose
41	chr22:22112800-22127400	Strong transcription	Fetal Brain Female	brain
42	chr22:22112800-22127600	Strong transcription	Fetal Intestine Large	intestine
43	chr22:22112800-22128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:22112800-22128800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:22113200-22116600	Weak transcription	HSMMtube	muscle
46	chr22:22113200-22117000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:22113200-22119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
49	chr22:22113600-22116600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:22113600-22116800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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