Variant report

Variant	rs552748040
Chromosome Location	chr11:65325133-65325134
allele	C/T
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	REST	chr11:65324702-65325295	A549	lung:	n/a	chr11:65324812-65324820
2	MXI1	chr11:65324370-65325987	IMR90	lung:	n/a	n/a
3	ZBTB7A	chr11:65324988-65326730	K562	blood:	n/a	chr11:65325577-65325585
4	POLR2A	chr11:65324624-65325279	HepG2	liver:	n/a	n/a
5	HEY1	chr11:65324688-65325238	HepG2	liver:	n/a	n/a
6	HEY1	chr11:65324572-65325331	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:65324796-65325245	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:65324701-65325290	HepG2	liver:	n/a	n/a
9	HNF4A	chr11:65324673-65325301	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
10	POLR2A	chr11:65324520-65325276	HepG2	liver:	n/a	n/a
11	MAX	chr11:65324384-65325434	A549	lung:	n/a	n/a
12	MYC	chr11:65324828-65325158	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:65325060-65325366	HUVEC	blood vessel:	n/a	n/a
14	EGR1	chr11:65324986-65325496	K562	blood:	n/a	n/a
15	HNF4G	chr11:65324651-65325205	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324885-65324900 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324887-65324902
16	HNF4A	chr11:65324732-65325208	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
17	POLR2A	chr11:65324407-65326431	HepG2	liver:	n/a	n/a
18	HDAC2	chr11:65324735-65325155	HepG2	liver:	n/a	chr11:65324893-65324901
19	POLR2A	chr11:65325071-65325232	A549	lung:	n/a	n/a
20	POLR2A	chr11:65325110-65325198	MCF-7	breast:	n/a	n/a
21	NFIC	chr11:65324713-65325242	HepG2	liver:	n/a	n/a
22	HNF4A	chr11:65324696-65325142	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324886-65324901 chr11:65324887-65324902
23	MXI1	chr11:65324787-65325230	HepG2	liver:	n/a	n/a
24	SP1	chr11:65324589-65325149	HepG2	liver:	n/a	chr11:65325068-65325082
25	ZBTB7A	chr11:65324888-65325521	ECC-1	luminal epithelium:	n/a	n/a
26	HNF4G	chr11:65324633-65325160	HepG2	liver:	n/a	chr11:65324893-65324901 chr11:65324989-65325003 chr11:65324887-65324900 chr11:65324887-65324902 chr11:65324885-65324900 chr11:65324887-65324902 chr11:65324887-65324900 chr11:65324889-65324901 chr11:65324887-65324902
27	EGR1	chr11:65324962-65325509	K562	blood:	n/a	n/a
28	POLR2A	chr11:65325074-65325400	A549	lung:	n/a	n/a
29	TAF1	chr11:65324787-65325397	HepG2	liver:	n/a	n/a
30	MAZ	chr11:65323932-65326942	IMR90	lung:	n/a	chr11:65326583-65326593 chr11:65325980-65325990
31	TAF1	chr11:65324800-65325481	HepG2	liver:	n/a	n/a
32	CEBPD	chr11:65324725-65325585	HepG2	liver:	n/a	n/a
33	MAZ	chr11:65324663-65325240	HepG2	liver:	n/a	n/a
34	BCL3	chr11:65324474-65325254	A549	lung:	n/a	n/a
35	YY1	chr11:65324691-65325155	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65322830..65325559-chr11:65385179..65389892,4	K562	blood:
2	chr11:65186486..65188182-chr11:65323386..65325229,2	MCF-7	breast:
3	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
4	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
5	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
6	chr11:65264814..65267848-chr11:65324930..65327383,6	K562	blood:
7	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
8	chr11:65269130..65271131-chr11:65323511..65325144,2	MCF-7	breast:
9	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
10	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
11	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:

Variant related genes	Relation type
LTBP3	TF binding region
ENSG00000245532	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65318600-65325800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65321200-65325400	Enhancers	Fetal Brain Male	brain
3	chr11:65321200-65326200	Enhancers	Spleen	Spleen
4	chr11:65323000-65325200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:65324000-65325200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:65324000-65325200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:65324000-65325200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:65324000-65325200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:65324000-65325200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:65324000-65325200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:65324000-65325200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:65324000-65325200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:65324000-65325200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:65324000-65325200	Flanking Active TSS	HMEC	breast
15	chr11:65324200-65325200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:65324200-65325200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr11:65324200-65325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:65324200-65325200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:65324200-65325200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65324200-65325200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65324200-65325200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:65324200-65325200	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:65324200-65325200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr11:65324200-65325800	Flanking Active TSS	Colonic Mucosa	Colon
25	chr11:65324400-65325200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:65324400-65325200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr11:65324400-65325200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:65324400-65325200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:65324400-65325200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:65324400-65325200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:65324400-65325200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:65324400-65325200	Flanking Active TSS	HUVEC	blood vessel
33	chr11:65324400-65325200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr11:65324400-65325600	Active TSS	Right Atrium	heart
35	chr11:65324400-65326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:65324400-65326200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:65324400-65326200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:65324400-65326200	Active TSS	NHLF	lung
39	chr11:65324400-65326400	Active TSS	Aorta	Aorta
40	chr11:65324400-65326400	Active TSS	Fetal Kidney	kidney
41	chr11:65324600-65325200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:65324600-65325200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr11:65324600-65325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:65324600-65325200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:65324600-65325200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:65324600-65325200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:65324600-65325200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:65324600-65325200	Flanking Active TSS	Liver	Liver
49	chr11:65324600-65325200	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr11:65324600-65325200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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