Variant report

Variant	rs861850
Chromosome Location	chr22:21993067-21993068
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr22:21992776-21993277	HepG2	liver:	n/a	n/a
2	ZC3H11A	chr22:21993044-21993107	K562	blood:	n/a	n/a
3	FOXA2	chr22:21992856-21993164	HepG2	liver:	n/a	n/a
4	MAX	chr22:21992926-21993126	HepG2	liver:	n/a	n/a
5	MAZ	chr22:21992950-21993163	K562	blood:	n/a	n/a
6	HNF4G	chr22:21992841-21993207	HepG2	liver:	n/a	n/a
7	USF2	chr22:21992942-21993197	K562	blood:	n/a	n/a
8	HNF4A	chr22:21992861-21993140	HepG2	liver:	n/a	n/a
9	USF2	chr22:21992916-21993221	HepG2	liver:	n/a	n/a
10	TBL1XR1	chr22:21992936-21993136	K562	blood:	n/a	n/a
11	NRF1	chr22:21992960-21993093	K562	blood:	n/a	n/a
12	TEAD4	chr22:21992744-21993271	HepG2	liver:	n/a	n/a
13	RCOR1	chr22:21992961-21993154	HepG2	liver:	n/a	n/a
14	BHLHE40	chr22:21992874-21993220	K562	blood:	n/a	n/a
15	POLR2A	chr22:21992963-21993229	HepG2	liver:	n/a	n/a
16	MAX	chr22:21992850-21993243	K562	blood:	n/a	n/a
17	CBX3	chr22:21992759-21993333	K562	blood:	n/a	n/a
18	USF1	chr22:21992901-21993177	HepG2	liver:	n/a	chr22:21993046-21993057
19	ELK1	chr22:21993021-21993101	K562	blood:	n/a	n/a
20	HEY1	chr22:21992971-21993202	HepG2	liver:	n/a	n/a
21	USF1	chr22:21992929-21993161	HepG2	liver:	n/a	chr22:21993046-21993057
22	STAT5A	chr22:21992804-21993206	K562	blood:	n/a	n/a
23	USF1	chr22:21992887-21993306	K562	blood:	n/a	chr22:21993046-21993057
24	MAX	chr22:21992955-21993074	K562	blood:	n/a	n/a
25	USF1	chr22:21992855-21993278	K562	blood:	n/a	chr22:21993046-21993057
26	HNF4A	chr22:21992775-21993182	HepG2	liver:	n/a	n/a
27	ZNF143	chr22:21992968-21993121	K562	blood:	n/a	n/a
28	HNF4G	chr22:21992842-21993206	HepG2	liver:	n/a	n/a
29	EGR1	chr22:21992776-21993177	K562	blood:	n/a	n/a
30	FOXA1	chr22:21992918-21993152	HepG2	liver:	n/a	n/a
31	FOXA1	chr22:21992841-21993240	HepG2	liver:	n/a	n/a
32	TBP	chr22:21992925-21993187	HepG2	liver:	n/a	n/a
33	BHLHE40	chr22:21992879-21993208	HepG2	liver:	n/a	n/a
34	RCOR1	chr22:21993060-21993127	K562	blood:	n/a	n/a
35	EGR1	chr22:21992774-21993132	K562	blood:	n/a	n/a
36	ARID3A	chr22:21992859-21993087	HepG2	liver:	n/a	n/a
37	EP300	chr22:21992833-21993251	HepG2	liver:	n/a	n/a
38	TBP	chr22:21992920-21993168	K562	blood:	n/a	n/a
39	FOXA1	chr22:21992827-21993243	HepG2	liver:	n/a	n/a
40	CUX1	chr22:21992975-21993174	K562	blood:	n/a	n/a
41	SMC3	chr22:21993044-21993169	HepG2	liver:	n/a	n/a
42	MAZ	chr22:21992972-21993194	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21980946..21981627-chr22:21992750..21993268,2	K562	blood:
2	chr22:21992086..21994401-chr22:22010428..22012823,2	MCF-7	breast:
3	chr22:21983684..21984891-chr22:21992715..21993648,3	K562	blood:

No data

Variant related genes	Relation type
SDF2L1	TF binding region
ENSG00000273342	TF binding region
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1103229	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs1647711	1.00[CHB][hapmap]
rs17821327	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs2876980	1.00[CHB][hapmap]
rs710171	1.00[CHB][hapmap]
rs717121	1.00[CHB][hapmap]
rs8135616	1.00[CHB][hapmap]
rs8135758	1.00[CHB][hapmap]
rs861787	1.00[ASN][1000 genomes]
rs861818	1.00[CHB][hapmap]
rs861828	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs861829	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs861831	1.00[CHB][hapmap]
rs861833	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs861844	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs861848	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861849	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861851	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861853	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861855	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs861858	1.00[ASN][1000 genomes]
rs881091	1.00[CHB][hapmap];0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers 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	374 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv516806	chr22:21982892-21997070	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs861850	PEX26	cis	cerebellum	SCAN
rs861850	DGCR14	cis	parietal	SCAN
rs861850	C22orf43	cis	cerebellum	SCAN
rs861850	MGC16703	cis	cerebellum	SCAN
rs861850	YPEL1	cis	parietal	SCAN
rs861850	PPIL2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21984400-21995200	Weak transcription	Fetal Intestine Small	intestine
2	chr22:21984400-21995600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:21984400-21995600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:21984400-21995600	Weak transcription	Esophagus	oesophagus
5	chr22:21984400-21995600	Weak transcription	Gastric	stomach
6	chr22:21984400-21995800	Weak transcription	Spleen	Spleen
7	chr22:21984400-21996000	Weak transcription	Aorta	Aorta
8	chr22:21984400-21996200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:21984600-21995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:21984600-21995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:21984600-21995400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:21984600-21995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:21984800-21995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:21985000-21995200	Weak transcription	GM12878-XiMat	blood
15	chr22:21987000-21995600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:21987000-21995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:21987200-21995600	Weak transcription	Placenta	Placenta
18	chr22:21987600-21993200	Weak transcription	Thymus	Thymus
19	chr22:21988400-21995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:21988400-21995600	Weak transcription	NHEK	skin
21	chr22:21990000-21995600	Weak transcription	Right Atrium	heart
22	chr22:21991200-21993800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:21991400-21995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:21991600-21995600	Weak transcription	Fetal Stomach	stomach
25	chr22:21992200-21994400	Enhancers	K562	blood
26	chr22:21992400-21994000	Enhancers	HepG2	liver
27	chr22:21992600-21995600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:21993000-21993200	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:21993000-21993200	Enhancers	Fetal Muscle Leg	muscle
30	chr22:21993000-21993200	Enhancers	A549	lung
31	chr22:21993000-21993800	Enhancers	Fetal Intestine Large	intestine
32	chr22:21993000-21995600	Weak transcription	Small Intestine	intestine

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