Variant report

Variant	rs11090572
Chromosome Location	chr22:29997139-29997140
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr22:29996790-29998015	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:29997048-29997265	Hela-S3	cervix:	n/a	n/a
3	TBP	chr22:29997070-29997959	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:29996966-29997266	Hela-S3	cervix:	n/a	n/a
5	ZKSCAN1	chr22:29997107-29997196	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr22:29996964-29997882	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29997111-29997161	AG09309	skin:	n/a
2	chr22:29997111-29997161	HNPCEpiC	eye:	n/a
3	chr22:29997111-29997161	T-47D	breast:	n/a
4	chr22:29997111-29997161	HCF	heart:	n/a
5	chr22:29997111-29997161	U87	brain:	n/a
6	chr22:29997111-29997161	RPTEC	kidney:	n/a
7	chr22:29997111-29997161	A549	lung:	n/a
8	chr22:29997111-29997161	IMR90	lung:	fetal
9	chr22:29997111-29997161	AG09319	gingival:	n/a
10	chr22:29997111-29997161	HCT-116	colon:	n/a
11	chr22:29997111-29997161	HL-60	blood:	n/a
12	chr22:29997111-29997161	HCPEpiC	choroid plexus:	n/a
13	chr22:29997111-29997161	BE2_C	brain:	n/a
14	chr22:29997111-29997161	HAEpiC	amniotic membrane:	n/a
15	chr22:29997111-29997161	HCM	heart:	n/a
16	chr22:29997111-29997161	SK-N-SH	brain:	n/a
17	chr22:29997111-29997161	GM19239	blood:	n/a
18	chr22:29997111-29997161	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:29997111-29997161	PANC-1	pancreas:	n/a
20	chr22:29997111-29997161	HRE	kidney:	n/a
21	chr22:29997111-29997161	SK-N-SH_RA	brain:	n/a
22	chr22:29997111-29997161	HepG2	liver:	n/a
23	chr22:29997111-29997161	AG04450	lung:	fetal
24	chr22:29997111-29997161	HRCEpiC	kidney:	n/a
25	chr22:29997111-29997161	GM12878	blood:	n/a
26	chr22:29997111-29997161	HUVEC	blood vessel:	n/a
27	chr22:29997111-29997161	NHBE	bronchial:	n/a
28	chr22:29997111-29997161	BJ	skin:	n/a
29	chr22:29997111-29997161	Hela-S3	cervix:	n/a
30	chr22:29997111-29997161	HMEC	breast:	n/a
31	chr22:29997111-29997161	AoSMC	blood vessel:	n/a
32	chr22:29997111-29997161	PFSK-1	brain:	n/a
33	chr22:29997111-29997161	Caco-2	colon:	n/a
34	chr22:29997111-29997161	GM12892	blood:	n/a
35	chr22:29997111-29997161	PrEC	prostate:	n/a
36	chr22:29997111-29997161	Hepatocyte	liver:	n/a
37	chr22:29997111-29997161	GM06990	blood:	n/a
38	chr22:29997111-29997161	MCF-7	breast:	n/a
39	chr22:29997111-29997161	SAEC	small airway:	n/a
40	chr22:29997111-29997161	ECC-1	luminal epithelium:	n/a
41	chr22:29997111-29997161	HEK293	kidney:	embryo
42	chr22:29997111-29997161	K562	blood:	n/a
43	chr22:29997111-29997161	LNCaP	prostate:	n/a
44	chr22:29997111-29997161	HRPEpiC	eye:	n/a
45	chr22:29997111-29997161	ProgFib	skin:	n/a
46	chr22:29997111-29997161	NH-A	brain:	n/a
47	chr22:29997111-29997161	NHDF-neo	bronchial:	n/a
48	chr22:29997111-29997161	NT2-D1	testis:	n/a
49	chr22:29997111-29997161	AG10803	skin:	n/a
50	chr22:29997111-29997161	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:29991379..29993013-chr22:29996011..29997879,2	K562	blood:
2	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
3	chr11:129334906..129335676-chr22:29997138..29998015,2	Hela-S3	cervix:
4	chr22:29995484..29998034-chr22:30003298..30004974,3	MCF-7	breast:
5	chr22:29776140..29778611-chr22:29995991..29998407,2	K562	blood:

No data

Variant related genes	Relation type
NF2	TF binding region
NF2	CpG island
ENSG00000184117	Chromatin interaction
ENSG00000233010	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11704455	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12165952	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12167058	0.84[EUR][1000 genomes]
rs13054076	0.93[EUR][1000 genomes]
rs1800539	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2158619	0.95[AFR][1000 genomes]
rs2348686	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2530662	0.91[EUR][1000 genomes]
rs2530685	0.88[AFR][1000 genomes]
rs2857631	0.82[AFR][1000 genomes]
rs2857652	0.82[AFR][1000 genomes]
rs4823049	0.93[EUR][1000 genomes]
rs55684603	0.84[EUR][1000 genomes]
rs5752946	0.94[EUR][1000 genomes]
rs5763354	0.93[EUR][1000 genomes]
rs5763378	0.91[EUR][1000 genomes]
rs62227968	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6519792	0.83[EUR][1000 genomes]
rs6519793	0.83[EUR][1000 genomes]
rs731647	0.82[AFR][1000 genomes]
rs756053	0.82[AFR][1000 genomes]
rs8140060	0.83[EUR][1000 genomes]
rs9625841	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29977600-29998800	Weak transcription	Right Atrium	heart
2	chr22:29985200-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:29985200-29999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:29990200-29999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29992800-29999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:29993200-29997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:29993400-29999000	Weak transcription	HSMMtube	muscle
8	chr22:29993600-29999000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr22:29994800-29997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:29995000-29998600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:29995000-29999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:29995000-29999000	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:29995000-29999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:29995000-29999000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:29995400-29999000	Weak transcription	Fetal Intestine Large	intestine
16	chr22:29995800-29997600	Weak transcription	Fetal Intestine Small	intestine
17	chr22:29996800-29997200	Flanking Active TSS	Hela-S3	cervix
18	chr22:29997000-29999000	Weak transcription	Placenta	Placenta

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