Variant report

Variant	rs56883526
Chromosome Location	chr11:65222145-65222146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:65222135-65223138	A549	lung:	n/a	n/a
2	POLR2A	chr11:65222085-65223002	IMR90	lung:	n/a	n/a
3	MTA3	chr11:65221885-65223341	GM12878	blood:	n/a	n/a
4	SIX5	chr11:65222053-65223026	A549	lung:	n/a	n/a
5	POLR2A	chr11:65221313-65224497	U87	brain:	n/a	n/a
6	POLR2A	chr11:65221907-65223320	PANC-1	pancreas:	n/a	n/a
7	CEBPB	chr11:65222094-65222239	K562	blood:	n/a	n/a
8	CHD1	chr11:65221247-65223345	IMR90	lung:	n/a	n/a
9	POLR2A	chr11:65221644-65223363	U87	brain:	n/a	n/a
10	RAD21	chr11:65222124-65222825	IMR90	lung:	n/a	n/a
11	SIN3AK20	chr11:65222081-65223183	MCF-7	breast:	n/a	n/a
12	STAT5A	chr11:65222104-65223227	GM12878	blood:	n/a	n/a
13	JUN	chr11:65221883-65223238	K562	blood:	n/a	n/a
14	NRF1	chr11:65222068-65223146	SK-N-SH	brain:	n/a	chr11:65222641-65222650 chr11:65222647-65222658
15	POLR2A	chr11:65222094-65223331	GM12892	blood:	n/a	n/a
16	JUN	chr11:65222001-65222167	H1-hESC	embryonic stem cell:	n/a	n/a
17	PML	chr11:65221970-65223327	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:65221795-65223245	U87	brain:	n/a	n/a
19	MAX	chr11:65222102-65223060	A549	lung:	n/a	n/a
20	POLR2A	chr11:65222114-65223151	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:65221680-65223245	U87	brain:	n/a	n/a
22	TBL1XR1	chr11:65222099-65222179	K562	blood:	n/a	n/a
23	POLR2A	chr11:65221721-65224440	PANC-1	pancreas:	n/a	n/a
24	FOXM1	chr11:65222054-65223155	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:65222134-65223122	PFSK-1	brain:	n/a	n/a
26	NR2F2	chr11:65221916-65223235	K562	blood:	n/a	n/a
27	PML	chr11:65221977-65223194	K562	blood:	n/a	n/a
28	MAX	chr11:65221922-65223226	A549	lung:	n/a	n/a
29	FOSL2	chr11:65221870-65223228	A549	lung:	n/a	n/a
30	POLR2A	chr11:65222047-65223041	HCT-116	colon:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65122004..65123879-chr11:65220475..65223059,2	K562	blood:
2	chr11:62608095..62609669-chr11:65220631..65223111,2	MCF-7	breast:
3	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173727	TF binding region
ENSG00000173825	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1151542	0.83[ASN][1000 genomes]
rs1194099	0.83[ASN][1000 genomes]
rs1622368	0.83[ASN][1000 genomes]
rs17146971	1.00[ASN][1000 genomes]
rs60236485	1.00[ASN][1000 genomes]
rs73497102	1.00[ASN][1000 genomes]
rs73499008	1.00[ASN][1000 genomes]
rs73499015	0.83[ASN][1000 genomes]
rs7927113	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic 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	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong 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	474 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	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
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	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
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65210000-65222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:65212200-65222200	Weak transcription	Liver	Liver
3	chr11:65212800-65222200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65212800-65222400	Weak transcription	Stomach Mucosa	stomach
5	chr11:65213800-65222200	Weak transcription	Gastric	stomach
6	chr11:65213800-65222200	Weak transcription	Pancreas	Pancrea
7	chr11:65214200-65222200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:65214400-65222200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:65214400-65222200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:65220000-65222200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:65220000-65222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:65220000-65222200	Enhancers	HMEC	breast
13	chr11:65220200-65222200	Enhancers	Esophagus	oesophagus
14	chr11:65220400-65222200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65220400-65222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:65220400-65227000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:65220600-65222200	Weak transcription	Lung	lung
18	chr11:65220800-65222200	Weak transcription	Left Ventricle	heart
19	chr11:65220800-65222200	Weak transcription	Small Intestine	intestine
20	chr11:65221200-65222200	Enhancers	Hela-S3	cervix
21	chr11:65221400-65222200	Enhancers	Right Ventricle	heart
22	chr11:65221400-65222200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:65221400-65222400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:65221600-65222200	Enhancers	Placenta	Placenta
25	chr11:65221600-65222400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:65221600-65222800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:65221600-65222800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:65221800-65222200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:65221800-65222200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:65221800-65222200	Enhancers	Fetal Heart	heart
31	chr11:65221800-65222200	Enhancers	Ovary	ovary
32	chr11:65221800-65222400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:65221800-65222400	Flanking Active TSS	HepG2	liver
34	chr11:65221800-65222600	Enhancers	Spleen	Spleen
35	chr11:65221800-65222800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:65221800-65222800	Active TSS	Colonic Mucosa	Colon
37	chr11:65221800-65222800	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:65221800-65222800	Flanking Active TSS	Osteobl	bone
39	chr11:65221800-65223200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:65221800-65223200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65221800-65223200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:65221800-65223200	Flanking Active TSS	HSMM	muscle
43	chr11:65221800-65223200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:65221800-65225400	Active TSS	GM12878-XiMat	blood
45	chr11:65222000-65222200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:65222000-65222200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:65222000-65222200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:65222000-65222200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:65222000-65222200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:65222000-65222200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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