Variant report

Variant	rs567901217
Chromosome Location	chr11:75525451-75525452
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	MAX	chr11:75525304-75526943	K562	blood:	n/a	n/a
2	USF1	chr11:75525435-75526435	SK-N-SH	brain:	n/a	chr11:75525889-75525898
3	MAX	chr11:75525291-75526474	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
5	POLR2A	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:75525442-75525924	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:75525408-75526999	HUVEC	blood vessel:	n/a	n/a
8	USF1	chr11:75525354-75526572	HCT-116	colon:	n/a	chr11:75525889-75525898
9	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:75525414-75527015	K562	blood:	n/a	n/a
11	E2F6	chr11:75525415-75526367	K562	blood:	n/a	chr11:75525874-75525885 chr11:75525875-75525887
12	USF1	chr11:75525324-75526483	ECC-1	luminal epithelium:	n/a	chr11:75525889-75525898
13	POLR2A	chr11:75525302-75527172	GM12892	blood:	n/a	n/a
14	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a
15	TCF7L2	chr11:75525413-75526430	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:75525357-75527092	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:75525392-75526975	HepG2	liver:	n/a	n/a
18	EBF1	chr11:75525449-75526403	GM12878	blood:	n/a	n/a
19	MAX	chr11:75525405-75526520	SK-N-SH	brain:	n/a	n/a
20	SMARCC1	chr11:75525411-75525994	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:75525432-75527100	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:75525396-75525945	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:75525391-75528411	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:75525430-75525809	GM12891	blood:	n/a	n/a
25	ELF1	chr11:75525379-75526575	MCF-7	breast:	n/a	chr11:75526395-75526404
26	POLR2A	chr11:75525354-75527231	GM19099	blood:	n/a	n/a
27	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
28	TCF7L2	chr11:75525383-75526363	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr11:75525414-75526575	Hela-S3	cervix:	n/a	chr11:75525812-75525827 chr11:75525810-75525825
30	POLR2A	chr11:75525317-75527115	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR2F2	chr11:75525400-75526750	K562	blood:	n/a	n/a
32	POLR2A	chr11:75525426-75527113	GM19193	blood:	n/a	n/a
33	FOXM1	chr11:75525342-75527075	GM12878	blood:	n/a	n/a
34	SP1	chr11:75525404-75526567	A549	lung:	n/a	chr11:75525877-75525891 chr11:75525931-75525943 chr11:75525932-75525942 chr11:75526391-75526403 chr11:75526188-75526197 chr11:75526206-75526227 chr11:75526168-75526175 chr11:75526187-75526201 chr11:75526186-75526198 chr11:75526110-75526122 chr11:75525789-75525803 chr11:75526187-75526196 chr11:75525788-75525800 chr11:75525790-75525799 chr11:75526186-75526198 chr11:75525985-75525996 chr11:75526112-75526121
35	MAX	chr11:75525417-75526162	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:75525400-75527079	GM12878	blood:	n/a	n/a
37	MAX	chr11:75525356-75526638	A549	lung:	n/a	n/a
38	POLR2A	chr11:75525281-75528491	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:75525394-75527417	GM12892	blood:	n/a	n/a
40	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
41	ELF1	chr11:75525384-75527022	GM12878	blood:	n/a	chr11:75526395-75526404
42	POLR2A	chr11:75525432-75527096	GM12878	blood:	n/a	n/a
43	ELF1	chr11:75525368-75526592	GM12878	blood:	n/a	chr11:75526395-75526404
44	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
45	ATF2	chr11:75525437-75526479	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a
47	TAF1	chr11:75525412-75526477	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr11:75525430-75525910	HCT-116	colon:	n/a	n/a
49	MAX	chr11:75525324-75526568	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:75525272-75528355	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75512671..75516260-chr11:75524397..75526274,3	MCF-7	breast:
2	chr11:75521352..75523071-chr11:75525241..75527592,2	MCF-7	breast:
3	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
4	chr11:75114198..75116876-chr11:75524077..75526236,2	K562	blood:
5	chr11:75507903..75509753-chr11:75522846..75525543,2	MCF-7	breast:
6	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
7	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
8	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
9	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
10	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	TF binding region
ENSG00000254814	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000207445	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood
2	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
3	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:75524800-75525600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:75524800-75525600	Flanking Active TSS	Hela-S3	cervix
6	chr11:75525000-75525600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:75525000-75525600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:75525000-75525600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:75525000-75525600	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr11:75525000-75525600	Flanking Active TSS	HMEC	breast
11	chr11:75525000-75525600	Flanking Active TSS	K562	blood
12	chr11:75525000-75525800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:75525000-75525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:75525000-75525800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:75525000-75525800	Flanking Active TSS	NHEK	skin
16	chr11:75525000-75527200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:75525000-75527200	Active TSS	Fetal Brain Female	brain
18	chr11:75525200-75525600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:75525200-75525600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:75525200-75525600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:75525200-75525600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:75525200-75525600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:75525200-75525600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:75525200-75525600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:75525200-75525600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:75525200-75525600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:75525200-75525600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:75525200-75525600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:75525200-75525600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:75525200-75525600	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr11:75525200-75525600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr11:75525200-75525600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:75525200-75525600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr11:75525200-75525600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:75525200-75525600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr11:75525200-75525600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:75525200-75525600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:75525200-75525600	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr11:75525200-75525600	Flanking Active TSS	Fetal Lung	lung
40	chr11:75525200-75525600	Flanking Active TSS	Placenta	Placenta
41	chr11:75525200-75525600	Flanking Active TSS	Fetal Stomach	stomach
42	chr11:75525200-75525600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:75525200-75525600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:75525200-75525600	Flanking Active TSS	Thymus	Thymus
45	chr11:75525200-75525600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr11:75525200-75525600	Flanking Active TSS	NHLF	lung
47	chr11:75525200-75525800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:75525200-75525800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:75525200-75525800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr11:75525200-75525800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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