Variant report

Variant	rs7293059
Chromosome Location	chr22:22081004-22081005
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	HMGN3	chr22:22080443-22081417	K562	blood:	n/a	n/a
2	CTCF	chr22:22080947-22081272	T-47D	breast:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
3	RAD21	chr22:22080951-22081349	A549	lung:	n/a	chr22:22081122-22081141
4	CTCF	chr22:22080824-22081408	MCF-7	breast:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
5	RAD21	chr22:22080845-22081281	HepG2	liver:	n/a	chr22:22081122-22081141
6	SMC3	chr22:22080926-22081294	Hela-S3	cervix:	n/a	chr22:22080985-22080992 chr22:22081126-22081140
7	CTCF	chr22:22080980-22081130	BJ	skin:	n/a	chr22:22080982-22080991
8	FOXA2	chr22:22080902-22081381	A549	lung:	n/a	n/a
9	RAD21	chr22:22080877-22081300	HepG2	liver:	n/a	chr22:22081122-22081141
10	CTCF	chr22:22080960-22081110	HAc	cerebellar:	n/a	chr22:22080982-22080991
11	BHLHE40	chr22:22080921-22081298	K562	blood:	n/a	n/a
12	CTCF	chr22:22080951-22081233	HepG2	liver:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
13	RAD21	chr22:22080927-22081317	K562	blood:	n/a	chr22:22081122-22081141
14	YY1	chr22:22080874-22081285	K562	blood:	n/a	n/a
15	CTCF	chr22:22080920-22081070	HVMF	connective:	n/a	chr22:22080982-22080991
16	RAD21	chr22:22080881-22081346	H1-hESC	embryonic stem cell:	n/a	chr22:22081122-22081141
17	ELF1	chr22:22080859-22081552	GM12878	blood:	n/a	n/a
18	CTCF	chr22:22080960-22081110	GM12878	blood:	n/a	chr22:22080982-22080991
19	TCF12	chr22:22080966-22081185	GM12878	blood:	n/a	chr22:22081003-22081013
20	TCF3	chr22:22080944-22081148	GM12878	blood:	n/a	n/a
21	RAD21	chr22:22080804-22081417	HCT-116	colon:	n/a	chr22:22081122-22081141
22	CTCF	chr22:22080988-22081274	GM12892	blood:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142
23	CTCF	chr22:22080843-22081312	H1-hESC	embryonic stem cell:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
24	RAD21	chr22:22080890-22081357	HepG2	liver:	n/a	chr22:22081122-22081141
25	MAX	chr22:22080886-22081239	K562	blood:	n/a	n/a
26	RAD21	chr22:22080855-22081402	MCF-7	breast:	n/a	chr22:22081122-22081141
27	SMC3	chr22:22080969-22081301	GM12878	blood:	n/a	chr22:22080985-22080992 chr22:22081126-22081140
28	JUND	chr22:22080917-22081273	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr22:22080511-22081368	SK-N-SH	brain:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
30	TCF12	chr22:22080944-22081162	GM12878	blood:	n/a	chr22:22081003-22081013
31	STAT5A	chr22:22080755-22081549	K562	blood:	n/a	n/a
32	CTCF	chr22:22080573-22081496	K562	blood:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
33	CTCF	chr22:22080846-22081370	HCT-116	colon:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
34	CTCF	chr22:22080893-22081335	HepG2	liver:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
35	CTCF	chr22:22081000-22081150	GM12869	blood:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142
36	SMC3	chr22:22080929-22081311	K562	blood:	n/a	chr22:22080985-22080992 chr22:22081126-22081140
37	CTCF	chr22:22080990-22081344	A549	lung:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142
38	HDAC2	chr22:22080577-22081675	K562	blood:	n/a	chr22:22081221-22081230 chr22:22081426-22081445
39	CTCF	chr22:22080917-22081247	H1-hESC	embryonic stem cell:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
40	RAD21	chr22:22080945-22081249	A549	lung:	n/a	chr22:22081122-22081141
41	RAD21	chr22:22080936-22081250	K562	blood:	n/a	chr22:22081122-22081141
42	CTCF	chr22:22080992-22081261	GM19238	blood:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142
43	RAD21	chr22:22080930-22081316	H1-hESC	embryonic stem cell:	n/a	chr22:22081122-22081141
44	CTCF	chr22:22080999-22081270	K562	blood:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142
45	CTCF	chr22:22080896-22081401	MCF-7	breast:	n/a	chr22:22081126-22081139 chr22:22081119-22081140 chr22:22081124-22081142 chr22:22080982-22080991
46	CTCFL	chr22:22080915-22081249	K562	blood:	n/a	n/a
47	HDAC2	chr22:22080887-22081257	H1-hESC	embryonic stem cell:	n/a	chr22:22081221-22081230
48	RAD21	chr22:22080746-22081373	H1-hESC	embryonic stem cell:	n/a	chr22:22081122-22081141
49	ZNF143	chr22:22080940-22081315	K562	blood:	n/a	n/a
50	ELF1	chr22:22080742-22081792	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22079397..22081685-chr22:22219818..22221978,2	K562	blood:
2	chr22:22067152..22067817-chr22:22080630..22081487,3	MCF-7	breast:
3	chr22:22080656..22083556-chr22:22291306..22293542,2	K562	blood:
4	chr22:22080691..22081382-chr22:22306838..22307469,2	K562	blood:
5	chr22:22067102..22068170-chr22:22080299..22081635,13	K562	blood:
6	chr22:21995484..21997437-chr22:22079170..22081079,2	MCF-7	breast:
7	chr22:22080317..22081666-chr22:22292337..22293570,6	K562	blood:
8	chr22:22026235..22026958-chr22:22080901..22081670,2	K562	blood:
9	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
10	chr22:22080235..22082660-chr22:22313495..22315266,2	K562	blood:
11	chr22:22080117..22083235-chr22:22087991..22091300,5	MCF-7	breast:
12	chr22:22080051..22081735-chr22:22313495..22315622,2	K562	blood:
13	chr22:22014030..22014620-chr22:22080902..22081531,2	K562	blood:
14	chr22:22066649..22069201-chr22:22080378..22082874,2	MCF-7	breast:
15	chr22:22055612..22059819-chr22:22080444..22082478,4	K562	blood:
16	chr22:22079960..22082455-chr22:22217388..22219689,2	K562	blood:
17	chr22:22001132..22001649-chr22:22080659..22081209,2	K562	blood:
18	chr22:22078529..22081108-chr22:22293630..22295238,2	K562	blood:
19	chr22:22067149..22069360-chr22:22080582..22081610,9	MCF-7	breast:
20	chr22:22080127..22082502-chr22:22094447..22097357,2	K562	blood:
21	chr22:22077279..22079847-chr22:22080289..22082120,2	K562	blood:
22	chr22:21981226..21984550-chr22:22079610..22083014,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL280P	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000244671	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1868936	1.00[AMR][1000 genomes]
rs240060	1.00[AMR][1000 genomes]
rs240061	1.00[AMR][1000 genomes]
rs240062	1.00[AMR][1000 genomes]
rs240613	1.00[AMR][1000 genomes]
rs416810	1.00[AMR][1000 genomes]
rs61757978	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
6	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
9	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
11	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
14	chr22:22073600-22082200	Weak transcription	Lung	lung
15	chr22:22073600-22088800	Weak transcription	Gastric	stomach
16	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
17	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:22077000-22081400	Strong transcription	Right Atrium	heart
19	chr22:22077200-22085000	Weak transcription	Ovary	ovary
20	chr22:22077200-22088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:22080000-22081200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:22080000-22081600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr22:22080000-22081800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:22080200-22081400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:22080200-22081400	Enhancers	Fetal Heart	heart
26	chr22:22080200-22081600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:22080400-22081200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:22080400-22081600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr22:22080400-22081600	Enhancers	Thymus	Thymus
30	chr22:22080400-22082000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:22080600-22081200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:22080600-22081400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:22080600-22081600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:22080600-22081600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr22:22080600-22081600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:22080600-22081600	Enhancers	Primary B cells from peripheral blood	blood
37	chr22:22080600-22081600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr22:22080600-22081600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:22080600-22081800	Enhancers	Fetal Thymus	thymus
40	chr22:22080800-22081400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:22080800-22081400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:22080800-22081400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr22:22080800-22081400	Enhancers	Primary T cells from cord blood	blood
44	chr22:22080800-22081400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:22080800-22081400	Enhancers	Brain Angular Gyrus	brain
46	chr22:22080800-22081400	Enhancers	Fetal Muscle Leg	muscle
47	chr22:22080800-22081400	Enhancers	Fetal Stomach	stomach
48	chr22:22080800-22081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:22080800-22081600	Enhancers	Fetal Muscle Trunk	muscle
50	chr22:22080800-22081800	Enhancers	Brain Inferior Temporal Lobe	brain

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