Variant report

Variant	rs58643523
Chromosome Location	chr22:30234469-30234470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:334)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:30233831-30234581	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30233945-30234739	MCF-7	breast:	n/a	n/a
3	MAX	chr22:30233859-30234627	Hela-S3	cervix:	n/a	chr22:30233934-30233943
4	RFX5	chr22:30233969-30234660	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr22:30234420-30234570	HEEpiC	esophagus:	n/a	n/a
6	CHD2	chr22:30233825-30234564	Hela-S3	cervix:	n/a	n/a
7	ZNF143	chr22:30233692-30234551	Hela-S3	cervix:	n/a	n/a
8	MAX	chr22:30233789-30234682	ECC-1	luminal epithelium:	n/a	chr22:30233934-30233943
9	CTCF	chr22:30234320-30234470	HCT-116	colon:	n/a	n/a
10	POLR2A	chr22:30233948-30234858	GM12878	blood:	n/a	n/a
11	YY1	chr22:30233833-30234554	K562	blood:	n/a	chr22:30234301-30234310
12	ELF1	chr22:30233793-30234768	MCF-7	breast:	n/a	chr22:30234278-30234291 chr22:30234245-30234258
13	NR2F2	chr22:30233959-30234662	K562	blood:	n/a	n/a
14	TAF1	chr22:30234017-30234544	H1-neurons	neurons:	n/a	n/a
15	USF1	chr22:30234203-30234711	ECC-1	luminal epithelium:	n/a	n/a
16	CHD2	chr22:30233977-30234614	K562	blood:	n/a	n/a
17	ATF2	chr22:30234033-30234573	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:30233855-30234827	HUVEC	blood vessel:	n/a	n/a
19	HEY1	chr22:30233982-30234739	HepG2	liver:	n/a	n/a
20	JUND	chr22:30234233-30234639	H1-hESC	embryonic stem cell:	n/a	chr22:30234546-30234556
21	E2F4	chr22:30234163-30234701	MCF10A-Er-Src	breast:	n/a	chr22:30234296-30234306 chr22:30234301-30234310
22	POLR2A	chr22:30233957-30234790	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr22:30234168-30234687	K562	blood:	n/a	chr22:30234546-30234556
24	ELF1	chr22:30233873-30234643	GM12878	blood:	n/a	chr22:30234278-30234291 chr22:30234245-30234258
25	POLR2A	chr22:30233837-30234778	GM12892	blood:	n/a	n/a
26	TAF1	chr22:30234208-30234643	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr22:30234006-30234517	A549	lung:	n/a	n/a
28	POLR2A	chr22:30233958-30234631	HCT-116	colon:	n/a	n/a
29	ETS1	chr22:30234050-30234469	A549	lung:	n/a	chr22:30234282-30234296 chr22:30234301-30234312 chr22:30234282-30234291
30	SP4	chr22:30234166-30234654	H1-hESC	embryonic stem cell:	n/a	chr22:30234299-30234315 chr22:30234391-30234407 chr22:30234367-30234378 chr22:30234393-30234409 chr22:30234297-30234313 chr22:30234405-30234416
31	GABPA	chr22:30233852-30234617	MCF-7	breast:	n/a	chr22:30234301-30234310
32	TBP	chr22:30234225-30234906	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:30234165-30234564	K562	blood:	n/a	n/a
34	POLR2A	chr22:30233978-30234585	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr22:30233846-30234727	GM12891	blood:	n/a	n/a
36	GATA2	chr22:30234266-30234603	SH-SY5Y	brain:	n/a	chr22:30234418-30234428
37	MTA3	chr22:30234235-30234791	GM12878	blood:	n/a	n/a
38	MAZ	chr22:30233907-30234608	HepG2	liver:	n/a	chr22:30233934-30233943
39	POLR2A	chr22:30233907-30234733	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr22:30233796-30234703	H1-neurons	neurons:	n/a	n/a
41	REST	chr22:30233464-30234918	H1-neurons	neurons:	n/a	chr22:30233992-30234005
42	TBP	chr22:30234239-30234665	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr22:30233745-30234620	A549	lung:	n/a	chr22:30234301-30234310
44	CTCF	chr22:30234380-30234530	SK-N-SH_RA	brain:	n/a	n/a
45	CEBPB	chr22:30234169-30234639	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr22:30233731-30234472	K562	blood:	n/a	chr22:30234301-30234310
47	POLR2A	chr22:30233997-30234723	SK-N-SH	brain:	n/a	n/a
48	ARID3A	chr22:30234310-30234611	HepG2	liver:	n/a	n/a
49	MAX	chr22:30234338-30234587	A549	lung:	n/a	n/a
50	POLR2A	chr22:30233869-30234833	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30234456-30234506	HIPEpiC	eye:	n/a
2	chr22:30234456-30234506	BE2_C	brain:	n/a
3	chr22:30234456-30234506	HAEpiC	amniotic membrane:	n/a
4	chr22:30234456-30234506	Hepatocyte	liver:	n/a
5	chr22:30234456-30234506	HEEpiC	esophagus:	n/a
6	chr22:30234456-30234506	HMEC	breast:	n/a
7	chr22:30234456-30234506	IMR90	lung:	fetal
8	chr22:30234456-30234506	U87	brain:	n/a
9	chr22:30234456-30234506	BJ	skin:	n/a
10	chr22:30234456-30234506	AG04449	skin:	fetal
11	chr22:30234456-30234506	GM12892	blood:	n/a
12	chr22:30234456-30234506	SK-N-SH_RA	brain:	n/a
13	chr22:30234456-30234506	HRCEpiC	kidney:	n/a
14	chr22:30234456-30234506	Caco-2	colon:	n/a
15	chr22:30234456-30234506	SAEC	small airway:	n/a
16	chr22:30234456-30234506	SKMC	muscle:	n/a
17	chr22:30234456-30234506	Hela-S3	cervix:	n/a
18	chr22:30234456-30234506	RPTEC	kidney:	n/a
19	chr22:30234456-30234506	AoSMC	blood vessel:	n/a
20	chr22:30234456-30234506	HUVEC	blood vessel:	n/a
21	chr22:30234456-30234506	GM06990	blood:	n/a
22	chr22:30234456-30234506	GM12891	blood:	n/a
23	chr22:30234456-30234506	PANC-1	pancreas:	n/a
24	chr22:30234456-30234506	A549	lung:	n/a
25	chr22:30234456-30234506	T-47D	breast:	n/a
26	chr22:30234456-30234506	GM12878	blood:	n/a
27	chr22:30234456-30234506	PFSK-1	brain:	n/a
28	chr22:30234456-30234506	HRPEpiC	eye:	n/a
29	chr22:30234456-30234506	HCM	heart:	n/a
30	chr22:30234456-30234506	GM19239	blood:	n/a
31	chr22:30234456-30234506	HPAEpiC	pulmonary alveolar:	n/a
32	chr22:30234456-30234506	PrEC	prostate:	n/a
33	chr22:30234456-30234506	AG04450	lung:	fetal
34	chr22:30234456-30234506	NHDF-neo	bronchial:	n/a
35	chr22:30234456-30234506	AG09309	skin:	n/a
36	chr22:30234456-30234506	HRE	kidney:	n/a
37	chr22:30234456-30234506	CMK	blood:	n/a
38	chr22:30234456-30234506	HEK293	kidney:	embryo
39	chr22:30234456-30234506	AG10803	skin:	n/a
40	chr22:30234456-30234506	Jurkat	blood:	n/a
41	chr22:30234456-30234506	AG09319	gingival:	n/a
42	chr22:30234456-30234506	MCF10A-Er-Src	breast:	n/a
43	chr22:30234456-30234506	HNPCEpiC	eye:	n/a
44	chr22:30234456-30234506	K562	blood:	n/a
45	chr22:30234456-30234506	ECC-1	luminal epithelium:	n/a
46	chr22:30234456-30234506	MCF-7	breast:	n/a
47	chr22:30234456-30234506	NHBE	bronchial:	n/a
48	chr22:30234456-30234506	HCT-116	colon:	n/a
49	chr22:30234456-30234506	LNCaP	prostate:	n/a
50	chr22:30234456-30234506	HCPEpiC	choroid plexus:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46723531..46724116-chr22:30233901..30234633,2	Hela-S3	cervix:
2	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
3	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
4	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
5	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
6	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
7	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
8	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
9	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:
10	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
11	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ASCC2	CpG island
ENSG00000100325	Chromatin interaction
ENSG00000091651	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100330	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11090582	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12166580	1.00[EUR][1000 genomes]
rs12627866	0.83[AFR][1000 genomes]
rs16988011	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16988043	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41479445	1.00[EUR][1000 genomes]
rs56783715	1.00[EUR][1000 genomes]
rs58113244	1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs59172206	1.00[EUR][1000 genomes]
rs59237579	1.00[EUR][1000 genomes]
rs59422664	1.00[EUR][1000 genomes]
rs59542747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60020246	1.00[EUR][1000 genomes]
rs60965931	1.00[EUR][1000 genomes]
rs61432554	1.00[EUR][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73392899	0.82[AFR][1000 genomes]
rs73394816	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73394842	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620930	1.00[EUR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625869	1.00[EUR][1000 genomes]
rs9625890	1.00[EUR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30232000-30234600	Active TSS	GM12878-XiMat	blood
2	chr22:30233000-30234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30233000-30234800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30233000-30234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30233200-30234600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr22:30233200-30234600	Active TSS	Stomach Mucosa	stomach
7	chr22:30233200-30234600	Active TSS	A549	lung
8	chr22:30233200-30234600	Active TSS	NHLF	lung
9	chr22:30233200-30234800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30233400-30234600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:30233400-30234600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr22:30233400-30234600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:30233400-30234600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr22:30233400-30234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr22:30233400-30234600	Bivalent/Poised TSS	HepG2	liver
16	chr22:30233400-30234600	Active TSS	HSMMtube	muscle
17	chr22:30233400-30234600	Active TSS	NHDF-Ad	bronchial
18	chr22:30233400-30234800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr22:30233400-30234800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr22:30233400-30235000	Active TSS	Fetal Kidney	kidney
21	chr22:30233600-30234600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30233600-30234600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30233600-30234600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:30233600-30234600	Active TSS	Brain Hippocampus Middle	brain
25	chr22:30233600-30234600	Active TSS	Left Ventricle	heart
26	chr22:30233600-30234600	Active TSS	Lung	lung
27	chr22:30233600-30234600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr22:30233600-30234800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr22:30233600-30234800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:30233600-30234800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr22:30233600-30234800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:30233600-30234800	Active TSS	Aorta	Aorta
33	chr22:30233600-30235000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:30233800-30234600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:30233800-30234600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:30233800-30234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:30233800-30234600	Active TSS	Primary T cells from cord blood	blood
38	chr22:30233800-30234600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:30233800-30234600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr22:30233800-30234600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:30233800-30234600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr22:30233800-30234600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:30233800-30234600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:30233800-30234600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:30233800-30234600	Active TSS	Brain Anterior Caudate	brain
46	chr22:30233800-30234600	Active TSS	Colon Smooth Muscle	Colon
47	chr22:30233800-30234600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr22:30233800-30234600	Active TSS	Fetal Heart	heart
49	chr22:30233800-30234600	Active TSS	Fetal Intestine Large	intestine
50	chr22:30233800-30234600	Active TSS	Fetal Lung	lung

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