Variant report

Variant	rs58291897
Chromosome Location	chr22:34319711-34319712
allele	C/G
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	RAD21	chr22:34319605-34319999	MCF-7	breast:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
2	SMC3	chr22:34319632-34320033	GM12878	blood:	n/a	chr22:34319847-34319861
3	CTCF	chr22:34319668-34320070	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
4	CTCF	chr22:34319700-34319850	HMEC	breast:	n/a	n/a
5	RUNX3	chr22:34319643-34319948	GM12878	blood:	n/a	n/a
6	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
7	SPI1	chr22:34319702-34320058	GM12891	blood:	n/a	chr22:34319876-34319883 chr22:34319875-34319884
8	CTCF	chr22:34319417-34320070	IMR90	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
9	CTCF	chr22:34319671-34319959	SK-N-SH_RA	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
10	SMC3	chr22:34319693-34320034	K562	blood:	n/a	chr22:34319847-34319861
11	ZNF143	chr22:34319676-34320022	GM12878	blood:	n/a	n/a
12	CTCF	chr22:34319632-34319947	T-47D	breast:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
13	RAD21	chr22:34319676-34320087	H1-hESC	embryonic stem cell:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
14	RAD21	chr22:34319630-34320101	A549	lung:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
15	RAD21	chr22:34319701-34320085	A549	lung:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
16	CTCF	chr22:34319336-34320112	SK-N-SH	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
17	RAD21	chr22:34319651-34320078	H1-hESC	embryonic stem cell:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
18	RAD21	chr22:34319685-34320059	HepG2	liver:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
19	CTCF	chr22:34319695-34320002	HepG2	liver:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
20	CTCF	chr22:34319620-34319770	HAc	cerebellar:	n/a	n/a
21	MAZ	chr22:34319637-34319957	HepG2	liver:	n/a	n/a
22	CTCF	chr22:34319671-34320045	K562	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
23	RAD21	chr22:34319620-34320086	HepG2	liver:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
24	CTCF	chr22:34319705-34319972	Spleen_OC	spleen:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
25	RAD21	chr22:34319688-34320041	GM12878	blood:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
26	CTCF	chr22:34319425-34320078	GM12878	blood:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
27	RAD21	chr22:34319603-34320091	MCF-7	breast:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
28	RAD21	chr22:34319674-34320045	GM12878	blood:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
29	RAD21	chr22:34319584-34320074	IMR90	lung:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
30	RAD21	chr22:34319662-34320079	H1-hESC	embryonic stem cell:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
31	GATA3	chr22:34319577-34319777	SH-SY5Y	brain:	n/a	chr22:34319724-34319740 chr22:34319728-34319737
32	SMC3	chr22:34319667-34320034	HepG2	liver:	n/a	chr22:34319847-34319861
33	MXI1	chr22:34319707-34319930	GM12878	blood:	n/a	n/a
34	RAD21	chr22:34319459-34320228	SK-N-SH	brain:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
35	CTCF	chr22:34319698-34319967	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
36	ARID3A	chr22:34319612-34319925	HepG2	liver:	n/a	n/a
37	ZNF143	chr22:34319686-34319983	K562	blood:	n/a	n/a
38	CTCF	chr22:34319709-34319972	Pancreas_OC	pancreas:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
39	RAD21	chr22:34319651-34320064	HepG2	liver:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
40	CTCF	chr22:34319700-34319850	HCT-116	colon:	n/a	n/a
41	SMC3	chr22:34319641-34320160	SK-N-SH	brain:	n/a	chr22:34319847-34319861
42	CTCF	chr22:34319570-34319985	MCF-7	breast:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
43	CTCF	chr22:34319483-34320101	A549	lung:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
44	CTCF	chr22:34319641-34320063	H1-hESC	embryonic stem cell:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
45	CTCF	chr22:34319635-34320052	HepG2	liver:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
46	RAD21	chr22:34319620-34320004	HCT-116	colon:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
47	CTCF	chr22:34319694-34319988	Medullo	brain:	n/a	chr22:34319848-34319857 chr22:34319845-34319863 chr22:34319847-34319868 chr22:34319848-34319861 chr22:34319846-34319862
48	RAD21	chr22:34319694-34320040	SK-N-SH_RA	brain:	n/a	chr22:34319847-34319861 chr22:34319846-34319865
49	NR2F2	chr22:34319608-34320101	MCF-7	breast:	n/a	n/a
50	SMC3	chr22:34319708-34320030	Hela-S3	cervix:	n/a	chr22:34319847-34319861

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34319321..34320710-chr22:34415195..34416586,9	MCF-7	breast:
2	chr22:34319140..34320261-chr22:34501294..34502117,5	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10427743	1.00[EUR][1000 genomes]
rs16993269	1.00[EUR][1000 genomes]
rs7284260	1.00[EUR][1000 genomes]
rs7290245	1.00[EUR][1000 genomes]
rs73408411	1.00[EUR][1000 genomes]
rs73408491	1.00[EUR][1000 genomes]
rs73408496	1.00[AMR][1000 genomes]
rs73882356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2100993	chr22:34319710-34319711	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34316000-34320000	Active TSS	Ovary	ovary
2	chr22:34318600-34319800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:34318600-34319800	Flanking Active TSS	Liver	Liver
4	chr22:34319000-34319800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr22:34319000-34319800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr22:34319000-34320000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr22:34319000-34320200	Enhancers	Left Ventricle	heart
8	chr22:34319000-34320200	Bivalent Enhancer	HepG2	liver
9	chr22:34319200-34319800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr22:34319200-34319800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr22:34319200-34319800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:34319200-34319800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr22:34319200-34319800	Enhancers	Brain Anterior Caudate	brain
14	chr22:34319200-34319800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr22:34319200-34319800	Enhancers	Duodenum Mucosa	Duodenum
16	chr22:34319200-34319800	Enhancers	Fetal Lung	lung
17	chr22:34319200-34320000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:34319400-34319800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:34319400-34319800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:34319400-34319800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr22:34319400-34319800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:34319400-34319800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:34319400-34319800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:34319400-34319800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:34319400-34319800	Enhancers	Brain Cingulate Gyrus	brain
26	chr22:34319400-34319800	Enhancers	Brain Substantia Nigra	brain
27	chr22:34319400-34319800	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:34319400-34319800	Enhancers	NHDF-Ad	bronchial
29	chr22:34319400-34320000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:34319400-34320000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:34319400-34320200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr22:34319400-34320200	Active TSS	Brain Angular Gyrus	brain
33	chr22:34319600-34319800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr22:34319600-34319800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:34319600-34319800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr22:34319600-34319800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr22:34319600-34319800	Enhancers	Fetal Heart	heart
38	chr22:34319600-34320000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr22:34319600-34320200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:34319600-34320200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:34319600-34320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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