Variant report

Variant	rs550843178
Chromosome Location	chr11:75525386-75525387
allele	A/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	MAX	chr11:75525291-75526474	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
4	POLR2A	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
5	USF1	chr11:75525354-75526572	HCT-116	colon:	n/a	chr11:75525889-75525898
6	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
7	USF1	chr11:75525324-75526483	ECC-1	luminal epithelium:	n/a	chr11:75525889-75525898
8	POLR2A	chr11:75525302-75527172	GM12892	blood:	n/a	n/a
9	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr11:75525357-75527092	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr11:75525379-75526575	MCF-7	breast:	n/a	chr11:75526395-75526404
12	POLR2A	chr11:75525354-75527231	GM19099	blood:	n/a	n/a
13	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
14	TCF7L2	chr11:75525383-75526363	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:75525317-75527115	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOXM1	chr11:75525342-75527075	GM12878	blood:	n/a	n/a
17	MAX	chr11:75525356-75526638	A549	lung:	n/a	n/a
18	POLR2A	chr11:75525281-75528491	GM12878	blood:	n/a	n/a
19	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
20	ELF1	chr11:75525384-75527022	GM12878	blood:	n/a	chr11:75526395-75526404
21	ELF1	chr11:75525368-75526592	GM12878	blood:	n/a	chr11:75526395-75526404
22	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a
24	MAX	chr11:75525324-75526568	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:75525272-75528355	GM12892	blood:	n/a	n/a
26	ELF1	chr11:75525363-75526682	HCT-116	colon:	n/a	chr11:75526395-75526404
27	CBX3	chr11:75525317-75526792	K562	blood:	n/a	n/a
28	SP1	chr11:75525311-75526683	HCT-116	colon:	n/a	chr11:75525877-75525891 chr11:75525931-75525943 chr11:75525932-75525942 chr11:75526391-75526403 chr11:75526188-75526197 chr11:75526206-75526227 chr11:75526168-75526175 chr11:75526589-75526602 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
29	POLR2A	chr11:75525357-75528182	Raji	blood:	n/a	n/a
30	JUN	chr11:75524100-75528948	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75526209-75526218 chr11:75528353-75528362 chr11:75524810-75524817 chr11:75524306-75524318 chr11:75524807-75524814 chr11:75526420-75526429 chr11:75524806-75524815 chr11:75524805-75524817
31	POLR2A	chr11:75524447-75526590	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:75525357-75527644	MCF10A-Er-Src	breast:	n/a	n/a
33	HCFC1	chr11:75524194-75528712	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr11:75525342-75526632	A549	lung:	n/a	chr11:75525772-75525779
35	SIN3A	chr11:75525366-75527019	GM12878	blood:	n/a	chr11:75526421-75526432
36	MAZ	chr11:75525208-75527403	IMR90	lung:	n/a	n/a
37	GATA2	chr11:75524222-75526005	HUVEC	blood vessel:	n/a	chr11:75524808-75524817 chr11:75524805-75524814
38	POLR2A	chr11:75525367-75525921	HCT-116	colon:	n/a	n/a
39	SIN3A	chr11:75525350-75527362	H1-hESC	embryonic stem cell:	n/a	chr11:75526421-75526432
40	SIN3AK20	chr11:75525247-75527175	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:75525349-75525910	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:75525375-75525937	ECC-1	luminal epithelium:	n/a	n/a
43	SRF	chr11:75525361-75526589	MCF-7	breast:	n/a	chr11:75526419-75526429
44	SIN3AK20	chr11:75525376-75526850	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr11:75525163-75525930	GM12878	blood:	n/a	n/a
46	SP1	chr11:75525319-75526684	HCT-116	colon:	n/a	chr11:75525877-75525891 chr11:75525931-75525943 chr11:75525932-75525942 chr11:75526391-75526403 chr11:75526188-75526197 chr11:75526206-75526227 chr11:75526168-75526175 chr11:75526589-75526602 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
47	USF1	chr11:75525325-75526470	HCT-116	colon:	n/a	chr11:75525889-75525898
48	POLR2A	chr11:75525384-75525888	K562	blood:	n/a	n/a
49	SREBP1	chr11:75525294-75526647	GM12878	blood:	n/a	chr11:75525866-75525875 chr11:75525811-75525825
50	ELK4	chr11:75525382-75526294	Hela-S3	cervix:	n/a	chr11:75525832-75525843

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	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
8	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
9	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
10	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
11	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
ENSG00000149273	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000207445	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000175536	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75521400-75525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:75522400-75525400	Weak transcription	Spleen	Spleen
3	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood
4	chr11:75523600-75525400	Flanking Active TSS	HepG2	liver
5	chr11:75523800-75525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:75524000-75525400	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
8	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:75524600-75525400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:75524800-75525400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:75524800-75525400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:75524800-75525400	Enhancers	Fetal Thymus	thymus
13	chr11:75524800-75525400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:75524800-75525600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:75524800-75525600	Flanking Active TSS	Hela-S3	cervix
16	chr11:75525000-75525400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:75525000-75525400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:75525000-75525400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:75525000-75525400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:75525000-75525400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:75525000-75525400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:75525000-75525400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:75525000-75525400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:75525000-75525400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:75525000-75525400	Enhancers	Esophagus	oesophagus
26	chr11:75525000-75525400	Enhancers	Fetal Brain Male	brain
27	chr11:75525000-75525400	Enhancers	Lung	lung
28	chr11:75525000-75525400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:75525000-75525400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:75525000-75525400	Enhancers	Stomach Mucosa	stomach
31	chr11:75525000-75525600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:75525000-75525600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:75525000-75525600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:75525000-75525600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr11:75525000-75525600	Flanking Active TSS	HMEC	breast
36	chr11:75525000-75525600	Flanking Active TSS	K562	blood
37	chr11:75525000-75525800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:75525000-75525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:75525000-75525800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:75525000-75525800	Flanking Active TSS	NHEK	skin
41	chr11:75525000-75527200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:75525000-75527200	Active TSS	Fetal Brain Female	brain
43	chr11:75525200-75525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:75525200-75525400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:75525200-75525400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:75525200-75525400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:75525200-75525400	Weak transcription	Aorta	Aorta
48	chr11:75525200-75525400	Enhancers	Liver	Liver
49	chr11:75525200-75525400	Enhancers	Brain Substantia Nigra	brain
50	chr11:75525200-75525400	Enhancers	Duodenum Smooth Muscle	Duodenum

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