Variant report

Variant	rs1103229
Chromosome Location	chr22:22022005-22022006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr22:22019188-22022102	K562	blood:	n/a	chr22:22020527-22020542
2	STAT5A	chr22:22021553-22022025	K562	blood:	n/a	n/a
3	TRIM28	chr22:22019223-22022009	K562	blood:	n/a	n/a
4	CBX3	chr22:22019191-22022046	K562	blood:	n/a	n/a
5	ZNF384	chr22:22021954-22022153	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
2	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
3	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
4	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
5	chr22:21355013..21358028-chr22:22019128..22023299,3	K562	blood:

No data

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000184436	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10427813	1.00[ASN][1000 genomes]
rs1647705	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669119	0.87[AMR][1000 genomes]
rs1669123	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	1.00[ASN][1000 genomes]
rs17821327	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17821500	1.00[ASN][1000 genomes]
rs2845458	1.00[ASN][1000 genomes]
rs28721456	1.00[ASN][1000 genomes]
rs2876980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs374659	0.81[CEU][hapmap]
rs55649326	1.00[ASN][1000 genomes]
rs61757982	1.00[ASN][1000 genomes]
rs61763381	1.00[ASN][1000 genomes]
rs61763388	1.00[ASN][1000 genomes]
rs710171	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs710176	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717121	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73149918	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs8135616	1.00[CHB][hapmap]
rs8135758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8136405	1.00[ASN][1000 genomes]
rs8139395	1.00[ASN][1000 genomes]
rs8140233	1.00[ASN][1000 genomes]
rs8142650	1.00[ASN][1000 genomes]
rs861811	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861820	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861821	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861832	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861840	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861841	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861845	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861846	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861850	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs861854	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs861855	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs861856	1.00[ASN][1000 genomes]
rs881091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607194	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	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
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1103229	HIC2	cis	cerebellum	SCAN
rs1103229	C22orf43	cis	cerebellum	SCAN
rs1103229	YPEL1	cis	parietal	SCAN
rs1103229	CECR4	cis	parietal	SCAN
rs1103229	PRAME	cis	parietal	SCAN
rs1103229	PPM1F	cis	cerebellum	SCAN
rs1103229	PPIL2	cis	cerebellum	SCAN
rs1103229	TOP3B	cis	cerebellum	SCAN
rs1103229	PEX26	cis	cerebellum	SCAN
rs1103229	DGCR14	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021000-22023600	Weak transcription	Spleen	Spleen
2	chr22:22021200-22022600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:22021200-22023800	Weak transcription	Ovary	ovary
4	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
6	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:22021400-22022200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:22021400-22022200	Weak transcription	Fetal Stomach	stomach
9	chr22:22021400-22022600	Enhancers	Primary B cells from peripheral blood	blood
10	chr22:22021400-22022600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr22:22021400-22022600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:22021400-22022600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr22:22021400-22022600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr22:22021400-22022600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr22:22021400-22022600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:22021400-22022600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr22:22021400-22023000	Enhancers	Placenta	Placenta
18	chr22:22021400-22023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:22021400-22023600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:22021400-22023600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:22021400-22023600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:22021400-22023600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:22021400-22023600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:22021400-22023600	Weak transcription	Thymus	Thymus
25	chr22:22021400-22023800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:22021400-22023800	Weak transcription	Brain Germinal Matrix	brain
27	chr22:22021400-22024000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:22021400-22024000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:22021400-22024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:22021400-22024000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:22021400-22024000	Weak transcription	HMEC	breast
32	chr22:22021400-22024000	Weak transcription	HSMM	muscle
33	chr22:22021400-22024000	Weak transcription	NHEK	skin
34	chr22:22021400-22024200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:22021400-22024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:22021400-22024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:22021400-22024200	Weak transcription	Liver	Liver
38	chr22:22021400-22024200	Weak transcription	Brain Angular Gyrus	brain
39	chr22:22021400-22024200	Weak transcription	Brain Anterior Caudate	brain
40	chr22:22021400-22024200	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:22021400-22024200	Weak transcription	HSMMtube	muscle
42	chr22:22021400-22024200	Weak transcription	HUVEC	blood vessel
43	chr22:22021400-22024200	Weak transcription	NHLF	lung
44	chr22:22021400-22024600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:22021400-22024600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:22021400-22024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:22021400-22024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:22021400-22024800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:22021400-22024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:22021400-22024800	Weak transcription	Fetal Brain Female	brain

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