Variant report

Variant	rs552816611
Chromosome Location	chr11:9025520-9025521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9025346-9025697	MCF10A-Er-Src	breast:	n/a	n/a
2	CBX3	chr11:9025039-9025739	K562	blood:	n/a	n/a
3	ATF1	chr11:9025404-9025661	K562	blood:	n/a	chr11:9025584-9025598
4	ZBTB7A	chr11:9025350-9025824	K562	blood:	n/a	chr11:9025801-9025809
5	REST	chr11:9024920-9025998	H1-neurons	neurons:	n/a	chr11:9025870-9025883 chr11:9025512-9025522
6	POLR2A	chr11:9025270-9025729	K562	blood:	n/a	n/a
7	HCFC1	chr11:9025194-9025615	K562	blood:	n/a	n/a
8	EP300	chr11:9025487-9025562	GM12878	blood:	n/a	n/a
9	ETS1	chr11:9025119-9025681	K562	blood:	n/a	n/a
10	SRF	chr11:9025454-9025632	HepG2	liver:	n/a	chr11:9025566-9025584
11	TAL1	chr11:9025309-9025629	K562	blood:	n/a	n/a
12	MAX	chr11:9024952-9025997	A549	lung:	n/a	n/a
13	SRF	chr11:9025438-9025707	GM12878	blood:	n/a	chr11:9025566-9025584
14	MAX	chr11:9025491-9025605	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:9025338-9025701	ProgFib	skin:	n/a	n/a
16	IRF1	chr11:9025463-9025758	K562	blood:	n/a	n/a
17	POLR2A	chr11:9025194-9025689	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr11:9025028-9025692	K562	blood:	n/a	n/a
19	BACH1	chr11:9025110-9026394	H1-hESC	embryonic stem cell:	n/a	n/a
20	HMGN3	chr11:9025063-9026170	K562	blood:	n/a	chr11:9025216-9025225
21	SP1	chr11:9025303-9025793	K562	blood:	n/a	n/a
22	TAF1	chr11:9025231-9025625	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr11:9024930-9025937	A549	lung:	n/a	chr11:9025568-9025575 chr11:9025293-9025302
24	UBTF	chr11:9025009-9025564	K562	blood:	n/a	n/a
25	MAX	chr11:9025040-9025722	K562	blood:	n/a	n/a
26	YY1	chr11:9025341-9025688	K562	blood:	n/a	n/a
27	POLR2A	chr11:9025175-9025751	HUVEC	blood vessel:	n/a	n/a
28	MAX	chr11:9024938-9026279	K562	blood:	n/a	chr11:9026108-9026121 chr11:9026109-9026120 chr11:9026110-9026119 chr11:9026110-9026119 chr11:9026257-9026266
29	POLR2A	chr11:9025064-9025744	PANC-1	pancreas:	n/a	n/a
30	E2F6	chr11:9025138-9025803	K562	blood:	n/a	chr11:9025568-9025575 chr11:9025293-9025302
31	POLR2A	chr11:9025293-9025694	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:9025270-9025739	Gliobla	brain:	n/a	n/a
33	POLR2A	chr11:9025275-9025785	PANC-1	pancreas:	n/a	n/a
34	RCOR1	chr11:9025031-9025825	K562	blood:	n/a	n/a
35	MAX	chr11:9025175-9025716	A549	lung:	n/a	n/a
36	YY1	chr11:9025070-9025809	K562	blood:	n/a	chr11:9025722-9025731 chr11:9025293-9025302 chr11:9025276-9025287 chr11:9025270-9025284 chr11:9025203-9025217
37	POLR2A	chr11:9025313-9025707	HEK293	kidney:	n/a	n/a
38	BHLHE40	chr11:9024913-9025717	K562	blood:	n/a	chr11:9025201-9025217 chr11:9025271-9025287
39	SIN3A	chr11:9024856-9025708	H1-hESC	embryonic stem cell:	n/a	chr11:9025194-9025207
40	POLR2A	chr11:9025183-9025732	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr11:9025440-9025590	Caco-2	colon:	n/a	n/a
42	POLR2A	chr11:9025209-9025698	HUVEC	blood vessel:	n/a	n/a
43	UBTF	chr11:9024724-9025712	K562	blood:	n/a	n/a
44	POLR2A	chr11:9025024-9025877	U87	brain:	n/a	n/a
45	POLR2A	chr11:9024893-9025889	H1-neurons	neurons:	n/a	n/a
46	CCNT2	chr11:9025073-9025813	K562	blood:	n/a	chr11:9025276-9025285
47	E2F6	chr11:9025010-9026481	H1-hESC	embryonic stem cell:	n/a	chr11:9026285-9026294 chr11:9025568-9025575 chr11:9025293-9025302
48	CREB1	chr11:9025245-9025767	GM12878	blood:	n/a	n/a
49	CREB1	chr11:9025325-9025837	HepG2	liver:	n/a	n/a
50	JUND	chr11:9025140-9025673	K562	blood:	n/a	chr11:9025217-9025227 chr11:9025218-9025226

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9025502-9025552	Caco-2	colon:	n/a
2	chr11:9025502-9025552	PANC-1	pancreas:	n/a
3	chr11:9025502-9025552	GM12878	blood:	n/a
4	chr11:9025502-9025552	HCPEpiC	choroid plexus:	n/a
5	chr11:9025502-9025552	MCF10A-Er-Src	breast:	n/a
6	chr11:9025502-9025552	PrEC	prostate:	n/a
7	chr11:9025502-9025552	NB4	blood:	n/a
8	chr11:9025502-9025552	HMEC	breast:	n/a
9	chr11:9025502-9025552	HEK293	kidney:	embryo
10	chr11:9025502-9025552	SAEC	small airway:	n/a
11	chr11:9025502-9025552	CMK	blood:	n/a
12	chr11:9025502-9025552	BJ	skin:	n/a
13	chr11:9025502-9025552	HCF	heart:	n/a
14	chr11:9025502-9025552	AG04449	skin:	fetal
15	chr11:9025502-9025552	HRCEpiC	kidney:	n/a
16	chr11:9025502-9025552	HIPEpiC	eye:	n/a
17	chr11:9025502-9025552	HEEpiC	esophagus:	n/a
18	chr11:9025502-9025552	MCF-7	breast:	n/a
19	chr11:9025502-9025552	LNCaP	prostate:	n/a
20	chr11:9025502-9025552	NHBE	bronchial:	n/a
21	chr11:9025502-9025552	HCT-116	colon:	n/a
22	chr11:9025502-9025552	HAEpiC	amniotic membrane:	n/a
23	chr11:9025502-9025552	Jurkat	blood:	n/a
24	chr11:9025502-9025552	GM12891	blood:	n/a
25	chr11:9025502-9025552	AG10803	skin:	n/a
26	chr11:9025502-9025552	AG09309	skin:	n/a
27	chr11:9025502-9025552	ovcar-3	ovarian:	n/a
28	chr11:9025502-9025552	RPTEC	kidney:	n/a
29	chr11:9025502-9025552	SK-N-SH_RA	brain:	n/a
30	chr11:9025502-9025552	Hepatocyte	liver:	n/a
31	chr11:9025502-9025552	ProgFib	skin:	n/a
32	chr11:9025502-9025552	AG04450	lung:	fetal
33	chr11:9025502-9025552	HepG2	liver:	n/a
34	chr11:9025502-9025552	HRE	kidney:	n/a
35	chr11:9025502-9025552	SK-N-MC	brain:	n/a
36	chr11:9025502-9025552	SK-N-SH	brain:	n/a
37	chr11:9025502-9025552	BE2_C	brain:	n/a
38	chr11:9025502-9025552	HNPCEpiC	eye:	n/a
39	chr11:9025502-9025552	NT2-D1	testis:	n/a
40	chr11:9025502-9025552	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:9025502-9025552	HCM	heart:	n/a
42	chr11:9025502-9025552	GM12892	blood:	n/a
43	chr11:9025502-9025552	AG09319	gingival:	n/a
44	chr11:9025502-9025552	SKMC	muscle:	n/a
45	chr11:9025502-9025552	NH-A	brain:	n/a
46	chr11:9025502-9025552	GM19239	blood:	n/a
47	chr11:9025502-9025552	GM06990	blood:	n/a
48	chr11:9025502-9025552	T-47D	breast:	n/a
49	chr11:9025502-9025552	U87	brain:	n/a
50	chr11:9025502-9025552	AoSMC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8984349..8987280-chr11:9024480..9026486,3	K562	blood:
2	chr11:8713787..8716446-chr11:9025116..9027150,2	K562	blood:
3	chr11:9023701..9026254-chr11:9404770..9407613,2	K562	blood:
4	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
5	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
6	chr11:8704228..8705954-chr11:9023702..9025627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253973	TF binding region
ENSG00000253973	CpG island
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000254665	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	esv3354735	chr11:9024401-9026949	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9023800-9026600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:9024400-9025600	Flanking Active TSS	NH-A	brain
3	chr11:9024400-9026200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr11:9024400-9026600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:9024600-9025600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:9024600-9025600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:9024600-9025600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:9024600-9025600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr11:9024600-9025600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
10	chr11:9024600-9025600	Flanking Active TSS	HUVEC	blood vessel
11	chr11:9024600-9025600	Flanking Bivalent TSS/Enh	NHEK	skin
12	chr11:9024600-9026000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
13	chr11:9024600-9026200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:9024600-9026200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr11:9024600-9026200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:9024600-9026200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr11:9024600-9026200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr11:9024600-9026400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr11:9024600-9026400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:9024600-9026400	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr11:9024600-9026600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr11:9024600-9027000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
26	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chr11:9024800-9025600	Flanking Active TSS	Right Ventricle	heart
29	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr11:9024800-9025600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
32	chr11:9024800-9025800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:9024800-9025800	Bivalent Enhancer	Fetal Lung	lung
34	chr11:9024800-9026000	Flanking Bivalent TSS/Enh	HMEC	breast
35	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr11:9024800-9026200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr11:9024800-9026200	Flanking Active TSS	Ovary	ovary
42	chr11:9024800-9026200	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr11:9024800-9026400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:9024800-9026400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:9024800-9026600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:9025000-9025600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr11:9025000-9025600	Bivalent/Poised TSS	Fetal Kidney	kidney
48	chr11:9025000-9025600	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr11:9025000-9025600	Flanking Active TSS	Pancreas	Pancrea
50	chr11:9025000-9025600	Active TSS	NHLF	lung

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