Variant report

Variant	rs17526668
Chromosome Location	chr22:30987933-30987934
allele	A/T
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	EP300	chr22:30987776-30988334	K562	blood:	n/a	n/a
2	TCF12	chr22:30987638-30988460	ECC-1	luminal epithelium:	n/a	n/a
3	FOXM1	chr22:30987830-30988584	ECC-1	luminal epithelium:	n/a	n/a
4	ATF2	chr22:30987737-30988332	GM12878	blood:	n/a	n/a
5	TBP	chr22:30987538-30988337	GM12878	blood:	n/a	n/a
6	SPI1	chr22:30987725-30988075	GM12891	blood:	n/a	n/a
7	SP4	chr22:30987636-30988386	H1-hESC	embryonic stem cell:	n/a	chr22:30988167-30988178
8	ZNF143	chr22:30987697-30988457	GM12878	blood:	n/a	n/a
9	ETS1	chr22:30987690-30988355	K562	blood:	n/a	n/a
10	POLR2A	chr22:30987671-30988043	HepG2	liver:	n/a	n/a
11	MTA3	chr22:30987659-30988247	GM12878	blood:	n/a	n/a
12	YY1	chr22:30987746-30988509	SK-N-SH_RA	brain:	n/a	n/a
13	NFIC	chr22:30987794-30988356	HepG2	liver:	n/a	n/a
14	ELF1	chr22:30987744-30988342	K562	blood:	n/a	chr22:30987744-30987756
15	MYC	chr22:30987108-30988538	A549	lung:	n/a	n/a
16	PAX5	chr22:30987922-30988450	GM12878	blood:	n/a	n/a
17	GTF2F1	chr22:30987780-30988311	K562	blood:	n/a	n/a
18	MAX	chr22:30987699-30988417	GM12878	blood:	n/a	n/a
19	POLR2A	chr22:30987085-30988246	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOXA1	chr22:30987819-30988310	HepG2	liver:	n/a	n/a
21	SP1	chr22:30987629-30988480	A549	lung:	n/a	chr22:30987757-30987767 chr22:30988316-30988325 chr22:30988167-30988178
22	RELA	chr22:30987757-30988409	GM19099	blood:	n/a	chr22:30987977-30987986 chr22:30987977-30987986
23	PML	chr22:30987138-30988569	GM12878	blood:	n/a	n/a
24	SP1	chr22:30987761-30988423	H1-hESC	embryonic stem cell:	n/a	chr22:30988316-30988325 chr22:30988167-30988178
25	USF1	chr22:30987723-30988051	SK-N-SH_RA	brain:	n/a	chr22:30987878-30987887
26	POLR2A	chr22:30987291-30988090	MCF-7	breast:	n/a	n/a
27	POLR2A	chr22:30987594-30988081	SK-N-SH	brain:	n/a	n/a
28	USF1	chr22:30987668-30988395	SK-N-SH	brain:	n/a	chr22:30987878-30987887
29	SP1	chr22:30987748-30988497	A549	lung:	n/a	chr22:30987757-30987767 chr22:30988316-30988325 chr22:30988167-30988178
30	USF1	chr22:30987600-30988439	ECC-1	luminal epithelium:	n/a	chr22:30987878-30987887
31	SPI1	chr22:30987631-30988539	HL-60	blood:	n/a	n/a
32	MAZ	chr22:30987750-30988388	HepG2	liver:	n/a	n/a
33	CHD2	chr22:30987758-30988420	GM12878	blood:	n/a	n/a
34	SIX5	chr22:30987714-30988399	A549	lung:	n/a	n/a
35	TCF12	chr22:30987695-30988534	ECC-1	luminal epithelium:	n/a	n/a
36	ATF3	chr22:30987680-30988345	GM12878	blood:	n/a	n/a
37	CREB1	chr22:30987670-30988411	HepG2	liver:	n/a	n/a
38	TAF1	chr22:30987609-30988193	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOSL2	chr22:30987750-30988371	A549	lung:	n/a	n/a
40	GABPA	chr22:30987666-30988430	MCF-7	breast:	n/a	n/a
41	MAFF	chr22:30987860-30988358	HepG2	liver:	n/a	n/a
42	EGR1	chr22:30987568-30988007	K562	blood:	n/a	chr22:30987741-30987763 chr22:30987746-30987759 chr22:30987747-30987758 chr22:30987746-30987756 chr22:30987746-30987759 chr22:30987747-30987756 chr22:30987746-30987759 chr22:30987746-30987759 chr22:30987747-30987757 chr22:30987745-30987759 chr22:30987747-30987757 chr22:30987745-30987760
43	SPI1	chr22:30987723-30987966	HL-60	blood:	n/a	n/a
44	USF1	chr22:30987716-30988030	HepG2	liver:	n/a	chr22:30987878-30987887
45	ELF1	chr22:30987766-30988482	A549	lung:	n/a	n/a
46	SPI1	chr22:30987737-30987987	K562	blood:	n/a	n/a
47	SPI1	chr22:30987749-30987994	K562	blood:	n/a	n/a
48	POLR2A	chr22:30987192-30988052	Hela-S3	cervix:	n/a	n/a
49	MAZ	chr22:30986755-30988532	IMR90	lung:	n/a	n/a
50	CEBPB	chr22:30987737-30988287	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30987737..30989936-chr22:31002004..31003702,2	MCF-7	breast:
2	chr22:30983113..30985414-chr22:30986213..30988243,5	MCF-7	breast:
3	chr22:30987634..30988149-chr4:57253320..57254113,2	MCF-7	breast:
4	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:
5	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000185339	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000128242	Chromatin interaction
ENSG00000269921	Chromatin interaction
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11912540	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11913206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913547	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988803	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988814	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34236034	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820869	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820877	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881484	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73881485	1.00[ASN][1000 genomes]
rs73881486	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30986200-30988200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr22:30986400-30988600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:30986600-30988200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:30986600-30988200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr22:30986600-30988200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr22:30986600-30988600	Active TSS	Fetal Kidney	kidney
7	chr22:30986800-30988000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30986800-30988200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:30986800-30988200	Active TSS	Fetal Muscle Trunk	muscle
10	chr22:30986800-30988200	Active TSS	K562	blood
11	chr22:30986800-30988400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr22:30986800-30988600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30986800-30988600	Active TSS	Psoas Muscle	Psoas
14	chr22:30986800-30988600	Active TSS	A549	lung
15	chr22:30987000-30988000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr22:30987000-30988000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:30987000-30988000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30987000-30988000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr22:30987000-30988000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30987000-30988000	Active TSS	Lung	lung
21	chr22:30987000-30988000	Active TSS	Small Intestine	intestine
22	chr22:30987000-30988200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:30987000-30988200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr22:30987000-30988200	Active TSS	GM12878-XiMat	blood
25	chr22:30987000-30988400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:30987000-30988400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:30987000-30988400	Active TSS	Left Ventricle	heart
28	chr22:30987000-30988600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:30987000-30988600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr22:30987000-30988600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:30987000-30988600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:30987000-30988600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:30987000-30988600	Active TSS	HSMM	muscle
34	chr22:30987000-30988600	Active TSS	NHDF-Ad	bronchial
35	chr22:30987000-30988600	Active TSS	NHEK	skin
36	chr22:30987200-30988000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr22:30987200-30988000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr22:30987200-30988000	Active TSS	Spleen	Spleen
39	chr22:30987200-30988200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr22:30987200-30988200	Active TSS	Aorta	Aorta
41	chr22:30987200-30988200	Active TSS	Fetal Intestine Small	intestine
42	chr22:30987200-30988200	Active TSS	Gastric	stomach
43	chr22:30987200-30988200	Active TSS	HMEC	breast
44	chr22:30987200-30988400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:30987200-30988400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr22:30987200-30988400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr22:30987200-30988400	Active TSS	Fetal Stomach	stomach
48	chr22:30987200-30988400	Active TSS	Hela-S3	cervix
49	chr22:30987200-30988400	Active TSS	NHLF	lung
50	chr22:30987200-30988400	Active TSS	Osteobl	bone

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