Variant report

Variant	rs12789028
Chromosome Location	chr11:65326154-65326155
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	CEBPD	chr11:65325755-65326182	HepG2	liver:	n/a	n/a
2	MAZ	chr11:65325633-65326316	Hela-S3	cervix:	n/a	chr11:65325980-65325990
3	MAX	chr11:65325546-65327362	ECC-1	luminal epithelium:	n/a	chr11:65326583-65326593 chr11:65325980-65325990
4	E2F6	chr11:65326003-65326241	K562	blood:	n/a	chr11:65326020-65326029
5	HEY1	chr11:65326010-65326364	HepG2	liver:	n/a	chr11:65326105-65326120 chr11:65326037-65326052
6	POLR2A	chr11:65326065-65326929	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:65325475-65326847	HUVEC	blood vessel:	n/a	n/a
8	EP300	chr11:65325713-65326228	K562	blood:	n/a	chr11:65325849-65325865 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869
9	ZBTB7A	chr11:65324988-65326730	K562	blood:	n/a	chr11:65325577-65325585
10	TCF12	chr11:65325547-65328080	ECC-1	luminal epithelium:	n/a	chr11:65326414-65326424
11	MAX	chr11:65325486-65326345	MCF-7	breast:	n/a	chr11:65325980-65325990
12	POLR2A	chr11:65325516-65327323	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:65326011-65326592	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:65325583-65326319	PANC-1	pancreas:	n/a	n/a
15	HEY1	chr11:65326047-65326347	K562	blood:	n/a	chr11:65326105-65326120
16	POLR2A	chr11:65326058-65326257	A549	lung:	n/a	n/a
17	JUND	chr11:65326080-65326234	K562	blood:	n/a	chr11:65326109-65326118 chr11:65326114-65326123
18	TEAD4	chr11:65325512-65326362	K562	blood:	n/a	n/a
19	ELF1	chr11:65325969-65326341	K562	blood:	n/a	n/a
20	POLR2A	chr11:65325630-65326227	K562	blood:	n/a	n/a
21	CBX3	chr11:65326041-65326322	K562	blood:	n/a	n/a
22	POLR2A	chr11:65325999-65326285	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:65325473-65327027	HUVEC	blood vessel:	n/a	n/a
24	HCFC1	chr11:65325379-65326730	Hela-S3	cervix:	n/a	n/a
25	EGR1	chr11:65325863-65326205	K562	blood:	n/a	chr11:65326021-65326034 chr11:65326022-65326031 chr11:65326021-65326031 chr11:65326021-65326034 chr11:65326021-65326034
26	TEAD4	chr11:65325579-65327144	ECC-1	luminal epithelium:	n/a	n/a
27	ZBTB7A	chr11:65325554-65328426	ECC-1	luminal epithelium:	n/a	chr11:65325577-65325585 chr11:65327180-65327191
28	TBP	chr11:65326143-65326243	K562	blood:	n/a	n/a
29	HDAC2	chr11:65325802-65326278	K562	blood:	n/a	chr11:65325910-65325924
30	YY1	chr11:65326036-65327018	ECC-1	luminal epithelium:	n/a	chr11:65326494-65326508
31	POLR2A	chr11:65325254-65326727	HUVEC	blood vessel:	n/a	n/a
32	EP300	chr11:65325409-65326228	SK-N-SH	brain:	n/a	chr11:65325849-65325865 chr11:65325533-65325549 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869
33	YY1	chr11:65326010-65327034	ECC-1	luminal epithelium:	n/a	chr11:65326020-65326034 chr11:65326494-65326508 chr11:65326023-65326032
34	POLR2A	chr11:65325540-65328890	U87	brain:	n/a	n/a
35	CHD2	chr11:65325652-65326192	Hela-S3	cervix:	n/a	chr11:65326116-65326126 chr11:65326111-65326121
36	REST	chr11:65326122-65326649	A549	lung:	n/a	chr11:65326595-65326608 chr11:65326592-65326612 chr11:65326592-65326601 chr11:65326592-65326605
37	MAZ	chr11:65325641-65326337	HepG2	liver:	n/a	chr11:65325980-65325990
38	YY1	chr11:65325571-65326342	K562	blood:	n/a	chr11:65326020-65326034 chr11:65325862-65325873 chr11:65325783-65325794 chr11:65325864-65325873 chr11:65325785-65325794 chr11:65325861-65325870 chr11:65326023-65326032
39	TAF1	chr11:65326056-65326264	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOSL2	chr11:65325586-65328762	SK-N-SH	brain:	n/a	chr11:65326109-65326118 chr11:65326808-65326816 chr11:65327674-65327685 chr11:65326806-65326818 chr11:65326114-65326123
41	TEAD4	chr11:65325509-65326351	SK-N-SH	brain:	n/a	n/a
42	EP300	chr11:65325583-65328254	ECC-1	luminal epithelium:	n/a	chr11:65325849-65325865 chr11:65326384-65326398 chr11:65326643-65326659 chr11:65326362-65326371 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869 chr11:65326647-65326663
43	ZNF384	chr11:65325669-65326282	K562	blood:	n/a	n/a
44	EP300	chr11:65325578-65327189	ECC-1	luminal epithelium:	n/a	chr11:65325849-65325865 chr11:65326384-65326398 chr11:65326643-65326659 chr11:65326362-65326371 chr11:65325862-65325878 chr11:65325863-65325872 chr11:65326040-65326056 chr11:65325853-65325869 chr11:65326647-65326663
45	FOSL1	chr11:65325829-65328395	HCT-116	colon:	n/a	chr11:65326109-65326118 chr11:65326808-65326816 chr11:65326806-65326818 chr11:65326114-65326123
46	NFIC	chr11:65325551-65328314	ECC-1	luminal epithelium:	n/a	n/a
47	UBTF	chr11:65325583-65326249	K562	blood:	n/a	n/a
48	TEAD4	chr11:65325871-65327114	ECC-1	luminal epithelium:	n/a	n/a
49	NR2F2	chr11:65325938-65326377	K562	blood:	n/a	n/a
50	MAX	chr11:65325617-65326229	K562	blood:	n/a	chr11:65325980-65325990

No.	Distal block	Cell Line	Cell type
1	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
2	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
3	chr11:65264814..65267848-chr11:65324930..65327383,6	K562	blood:
4	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
5	chr11:65325880..65326380-chr3:112226218..112226735,2	Hela-S3	cervix:
6	chr11:65188846..65191466-chr11:65325823..65328502,2	MCF-7	breast:
7	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
8	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
9	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
ENSG00000245532	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1346	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
6	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
7	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
8	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
9	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
10	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
12	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
13	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
14	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
15	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers 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	102 gene(s)	inside rSNPs	diseases
17	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
18	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	esv3358908	chr11:65324401-65327349	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	11 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	chr11:65321200-65326200	Enhancers	Spleen	Spleen
2	chr11:65324400-65326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:65324400-65326200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:65324400-65326200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr11:65324400-65326200	Active TSS	NHLF	lung
6	chr11:65324400-65326400	Active TSS	Aorta	Aorta
7	chr11:65324400-65326400	Active TSS	Fetal Kidney	kidney
8	chr11:65324600-65326400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:65324600-65326400	Active TSS	Ovary	ovary
10	chr11:65324800-65326200	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr11:65324800-65326200	Active TSS	Brain Substantia Nigra	brain
12	chr11:65324800-65326200	Active TSS	Colon Smooth Muscle	Colon
13	chr11:65324800-65326200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:65324800-65326200	Active TSS	A549	lung
15	chr11:65324800-65326200	Active TSS	Osteobl	bone
16	chr11:65325000-65326200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:65325000-65326200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:65325000-65326200	Active TSS	Primary T cells from cord blood	blood
19	chr11:65325000-65326200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr11:65325000-65326200	Active TSS	Brain Anterior Caudate	brain
21	chr11:65325000-65326200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:65325000-65326200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:65325000-65326200	Active TSS	Fetal Lung	lung
24	chr11:65325000-65326200	Active TSS	Left Ventricle	heart
25	chr11:65325000-65326200	Active TSS	Lung	lung
26	chr11:65325000-65326200	Active TSS	Psoas Muscle	Psoas
27	chr11:65325000-65326200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:65325000-65326200	Weak transcription	Stomach Mucosa	stomach
29	chr11:65325000-65326200	Active TSS	HSMMtube	muscle
30	chr11:65325000-65326400	Active TSS	Fetal Brain Female	brain
31	chr11:65325000-65326400	Active TSS	Small Intestine	intestine
32	chr11:65325000-65326400	Active TSS	HepG2	liver
33	chr11:65325000-65326600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr11:65325000-65326800	Enhancers	Primary B cells from cord blood	blood
35	chr11:65325000-65327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:65325200-65326200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:65325200-65326200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr11:65325200-65326200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:65325200-65326200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:65325200-65326200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:65325200-65326200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:65325200-65326200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:65325200-65326200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:65325200-65326200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:65325200-65326200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:65325200-65326200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:65325200-65326200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:65325200-65326200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr11:65325200-65326200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:65325200-65326200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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