Variant report

Variant	rs424234
Chromosome Location	chr11:72296700-72296701
allele	A/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	chr11:72296657-72297179	A549	lung:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
2	CTCF	chr11:72296673-72297253	H1-hESC	embryonic stem cell:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
3	CTCF	chr11:72296610-72297195	MCF-7	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
4	CTCF	chr11:72296682-72297121	T-47D	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
5	CTCF	chr11:72296676-72297123	GM12878	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
6	CTCF	chr11:72296494-72297328	HCT-116	colon:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
7	BRCA1	chr11:72296650-72297056	Hela-S3	cervix:	n/a	n/a
8	TCF12	chr11:72296630-72297202	A549	lung:	n/a	n/a
9	CTCF	chr11:72296650-72297274	MCF-7	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
10	TFAP2A	chr11:72296573-72297474	Hela-S3	cervix:	n/a	chr11:72296931-72296942 chr11:72296931-72296942 chr11:72296932-72296947 chr11:72296927-72296942 chr11:72296931-72296942 chr11:72296931-72296942
11	TFAP2C	chr11:72296460-72297468	Hela-S3	cervix:	n/a	chr11:72296929-72296944
12	RAD21	chr11:72296638-72297156	SK-N-SH_RA	brain:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
13	SMC3	chr11:72296491-72297270	Hela-S3	cervix:	n/a	chr11:72297011-72297018 chr11:72296906-72296920
14	FOXM1	chr11:72296644-72297186	GM12878	blood:	n/a	n/a
15	SMC3	chr11:72296516-72297117	K562	blood:	n/a	chr11:72297011-72297018 chr11:72296906-72296920
16	RAD21	chr11:72296344-72297395	SK-N-SH	brain:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296390-72296400 chr11:72296990-72297003
17	MAZ	chr11:72296643-72297107	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr11:72296688-72297182	Hela-S3	cervix:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
19	MAX	chr11:72296689-72297262	ECC-1	luminal epithelium:	n/a	n/a
20	ZNF263	chr11:72296655-72297299	HEK293-T-REx	kidney:	n/a	n/a
21	RAD21	chr11:72296605-72297329	ECC-1	luminal epithelium:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
22	RAD21	chr11:72296686-72297156	HepG2	liver:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
23	RAD21	chr11:72296675-72297219	A549	lung:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
24	CTCF	chr11:72296683-72297164	IMR90	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
25	CHD2	chr11:72296574-72297093	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr11:72296666-72297104	H1-hESC	embryonic stem cell:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
27	RAD21	chr11:72296642-72297269	MCF-7	breast:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
28	CTCF	chr11:72296483-72297453	A549	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
29	SMC3	chr11:72296536-72297547	SK-N-SH	brain:	n/a	chr11:72297011-72297018 chr11:72296906-72296920
30	RAD21	chr11:72296547-72297376	HCT-116	colon:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
31	CTCF	chr11:72296692-72297108	HepG2	liver:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
32	RAD21	chr11:72296631-72297226	ECC-1	luminal epithelium:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
33	POLR2A	chr11:72296694-72297175	Hela-S3	cervix:	n/a	n/a
34	YY1	chr11:72296694-72297136	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:72296589-72297204	K562	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
36	RAD21	chr11:72296632-72297289	MCF-7	breast:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
37	CTCF	chr11:72296655-72297240	HCT-116	colon:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
38	RAD21	chr11:72296692-72297075	HepG2	liver:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
39	CTCF	chr11:72296207-72297285	SK-N-SH	brain:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
40	RAD21	chr11:72296639-72297225	H1-hESC	embryonic stem cell:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
41	CTCF	chr11:72296684-72297103	K562	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
42	RAD21	chr11:72296531-72297394	HCT-116	colon:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003

No.	Distal block	Cell Line	Cell type
1	chr11:72296502..72297376-chr11:72395958..72396520,2	MCF-7	breast:
2	chr11:72296447..72297845-chr11:72353504..72354713,7	K562	blood:
3	chr11:72296471..72297070-chr9:124082115..124083042,2	MCF-7	breast:
4	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:
5	chr11:72296452..72297372-chr11:72394539..72395851,6	K562	blood:
6	chr11:72296480..72297346-chr11:72353767..72354676,6	MCF-7	breast:
7	chr11:72296491..72297510-chr11:72394098..72395409,7	MCF-7	breast:
8	chr11:72296428..72297428-chr11:72319819..72320660,3	K562	blood:
9	chr11:72296372..72297374-chr11:72394518..72396001,14	MCF-7	breast:
10	chr11:72296290..72298489-chr11:72299614..72302412,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000186642	Chromatin interaction
ENSG00000255808	Chromatin interaction
ENSG00000256007	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10751208	0.87[AFR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs414178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72289400-72299800	Weak transcription	Lung	lung
2	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
4	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
5	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart
8	chr11:72295200-72296800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:72295200-72296800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:72295200-72297200	Bivalent Enhancer	Placenta	Placenta
11	chr11:72295200-72297400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr11:72295200-72297400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:72295200-72303000	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:72295600-72296800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr11:72295600-72296800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:72295600-72297800	Genic enhancers	Spleen	Spleen
17	chr11:72295800-72296800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:72295800-72296800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:72295800-72296800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:72295800-72296800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:72295800-72297000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:72295800-72297200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:72295800-72297200	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr11:72295800-72297400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr11:72295800-72301000	Weak transcription	Gastric	stomach
26	chr11:72296000-72296800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:72296000-72296800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr11:72296000-72296800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:72296000-72296800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr11:72296000-72296800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:72296000-72296800	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr11:72296000-72296800	Weak transcription	Esophagus	oesophagus
33	chr11:72296000-72296800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr11:72296000-72297200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr11:72296000-72297200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
36	chr11:72296000-72297400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr11:72296000-72297400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:72296200-72296800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:72296200-72297000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr11:72296200-72297000	Bivalent Enhancer	NHEK	skin
41	chr11:72296200-72297200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:72296200-72297200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:72296200-72297200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr11:72296200-72297400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:72296200-72299600	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:72296400-72296800	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:72296400-72296800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:72296400-72296800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:72296400-72296800	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr11:72296400-72297000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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