Variant report

Variant	rs561054159
Chromosome Location	chr11:75525664-75525665
allele	A/G
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	TCF7L2	chr11:75525634-75526033	MCF-7	breast:	n/a	n/a
3	USF1	chr11:75525435-75526435	SK-N-SH	brain:	n/a	chr11:75525889-75525898
4	MAX	chr11:75525291-75526474	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
6	EBF1	chr11:75525567-75525912	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
8	ATF3	chr11:75525663-75526325	GM12878	blood:	n/a	n/a
9	USF2	chr11:75525477-75526241	GM12878	blood:	n/a	chr11:75525865-75525876 chr11:75525889-75525898
10	MAX	chr11:75525496-75526300	SK-N-SH	brain:	n/a	n/a
11	THAP1	chr11:75525547-75526048	K562	blood:	n/a	n/a
12	SPI1	chr11:75525639-75526039	GM12878	blood:	n/a	n/a
13	STAT1	chr11:75525513-75526496	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr11:75525519-75526603	SK-N-SH	brain:	n/a	n/a
15	MAX	chr11:75525474-75526177	K562	blood:	n/a	n/a
16	POLR2A	chr11:75525442-75525924	HUVEC	blood vessel:	n/a	n/a
17	WRNIP1	chr11:75525566-75526254	GM12878	blood:	n/a	n/a
18	MAX	chr11:75525574-75526244	A549	lung:	n/a	n/a
19	SMC3	chr11:75525562-75526257	Hela-S3	cervix:	n/a	chr11:75525880-75525890
20	JUND	chr11:75525452-75526521	K562	blood:	n/a	chr11:75526209-75526218 chr11:75526420-75526429
21	SP1	chr11:75525664-75526453	H1-hESC	embryonic stem cell:	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
22	POLR2A	chr11:75525408-75526999	HUVEC	blood vessel:	n/a	n/a
23	ELF1	chr11:75525501-75526308	A549	lung:	n/a	n/a
24	ELK1	chr11:75525660-75526049	K562	blood:	n/a	n/a
25	POLR2A	chr11:75525602-75525881	A549	lung:	n/a	n/a
26	USF1	chr11:75525564-75526091	GM12878	blood:	n/a	chr11:75525889-75525898
27	USF1	chr11:75525354-75526572	HCT-116	colon:	n/a	chr11:75525889-75525898
28	NFIC	chr11:75525664-75526024	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
30	RELA	chr11:75525552-75526351	GM19099	blood:	n/a	n/a
31	SP1	chr11:75525470-75526520	GM12878	blood:	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
32	RCOR1	chr11:75525500-75526789	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr11:75525598-75527073	K562	blood:	n/a	chr11:75526167-75526174
34	CHD2	chr11:75525474-75526983	Hela-S3	cervix:	n/a	n/a
35	USF1	chr11:75525647-75526069	GM12878	blood:	n/a	chr11:75525889-75525898
36	POLR2A	chr11:75525578-75526610	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:75525414-75527015	K562	blood:	n/a	n/a
38	E2F6	chr11:75525415-75526367	K562	blood:	n/a	chr11:75525874-75525885 chr11:75525875-75525887
39	YY1	chr11:75525663-75525886	K562	blood:	n/a	n/a
40	USF1	chr11:75525324-75526483	ECC-1	luminal epithelium:	n/a	chr11:75525889-75525898
41	ELF1	chr11:75525546-75526164	A549	lung:	n/a	n/a
42	POLR2A	chr11:75525302-75527172	GM12892	blood:	n/a	n/a
43	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a
44	MYC	chr11:75525623-75526257	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:75525518-75526624	HL-60	blood:	n/a	n/a
46	TCF7L2	chr11:75525413-75526430	PANC-1	pancreas:	n/a	n/a
47	CREB1	chr11:75525643-75526434	ECC-1	luminal epithelium:	n/a	n/a
48	USF1	chr11:75525653-75526347	SK-N-SH_RA	brain:	n/a	chr11:75525889-75525898
49	NFYA	chr11:75525563-75526536	Hela-S3	cervix:	n/a	chr11:75526207-75526217 chr11:75526205-75526220 chr11:75526205-75526223 chr11:75526205-75526219 chr11:75526205-75526220
50	USF1	chr11:75525487-75526359	K562	blood:	n/a	chr11:75525889-75525898

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75525637-75525687	NH-A	brain:	n/a
2	chr11:75525637-75525687	HL-60	blood:	n/a
3	chr11:75525637-75525687	GM12892	blood:	n/a
4	chr11:75525637-75525687	SKMC	muscle:	n/a
5	chr11:75525637-75525687	H1-hESC	embryonic stem cell:	embryo
6	chr11:75525637-75525687	A549	lung:	n/a
7	chr11:75525637-75525687	GM06990	blood:	n/a
8	chr11:75525637-75525687	HMEC	breast:	n/a
9	chr11:75525637-75525687	HCF	heart:	n/a
10	chr11:75525637-75525687	HEK293	kidney:	embryo
11	chr11:75525637-75525687	IMR90	lung:	fetal
12	chr11:75525637-75525687	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:75525637-75525687	T-47D	breast:	n/a
14	chr11:75525637-75525687	MCF-7	breast:	n/a
15	chr11:75525637-75525687	Hela-S3	cervix:	n/a
16	chr11:75525637-75525687	HRPEpiC	eye:	n/a
17	chr11:75525637-75525687	GM12878	blood:	n/a
18	chr11:75525637-75525687	HCM	heart:	n/a
19	chr11:75525637-75525687	HepG2	liver:	n/a
20	chr11:75525637-75525687	Hepatocyte	liver:	n/a
21	chr11:75525637-75525687	ProgFib	skin:	n/a
22	chr11:75525637-75525687	ECC-1	luminal epithelium:	n/a
23	chr11:75525637-75525687	ovcar-3	ovarian:	n/a
24	chr11:75525637-75525687	SK-N-MC	brain:	n/a
25	chr11:75525637-75525687	AG10803	skin:	n/a
26	chr11:75525637-75525687	AoSMC	blood vessel:	n/a
27	chr11:75525637-75525687	NT2-D1	testis:	n/a
28	chr11:75525637-75525687	AG04449	skin:	fetal
29	chr11:75525637-75525687	CMK	blood:	n/a
30	chr11:75525637-75525687	NHDF-neo	bronchial:	n/a
31	chr11:75525637-75525687	HRCEpiC	kidney:	n/a
32	chr11:75525637-75525687	HNPCEpiC	eye:	n/a
33	chr11:75525637-75525687	Caco-2	colon:	n/a
34	chr11:75525637-75525687	SK-N-SH_RA	brain:	n/a
35	chr11:75525637-75525687	Jurkat	blood:	n/a
36	chr11:75525637-75525687	PANC-1	pancreas:	n/a
37	chr11:75525637-75525687	NHBE	bronchial:	n/a
38	chr11:75525637-75525687	AG04450	lung:	fetal
39	chr11:75525637-75525687	AG09319	gingival:	n/a
40	chr11:75525637-75525687	HIPEpiC	eye:	n/a
41	chr11:75525637-75525687	PrEC	prostate:	n/a
42	chr11:75525637-75525687	SK-N-SH	brain:	n/a
43	chr11:75525637-75525687	BE2_C	brain:	n/a
44	chr11:75525637-75525687	HRE	kidney:	n/a
45	chr11:75525637-75525687	HUVEC	blood vessel:	n/a
46	chr11:75525637-75525687	NB4	blood:	n/a
47	chr11:75525637-75525687	HAEpiC	amniotic membrane:	n/a
48	chr11:75525637-75525687	SAEC	small airway:	n/a
49	chr11:75525637-75525687	BJ	skin:	n/a
50	chr11:75525637-75525687	HCT-116	colon:	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	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
6	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
7	chr11:75111521..75113837-chr11:75523467..75525934,2	K562	blood:
8	chr11:75501690..75503528-chr11:75525644..75528441,2	K562	blood:
9	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
10	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:
11	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP6-4	chr11:75525508-75525842	ENSG00000255507.1
2	lnc-MAP6-4	chr11:75525532-75525674	ENSG00000255507.1
3	lnc-MAP6-3	chr11:75525508-75525951	NONHSAT023136

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	TF binding region
ENSG00000255507	CpG island
UVRAG	CpG island
ENSG00000207445	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000254814	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000247867	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75524200-75525800	Flanking Active TSS	HUVEC	blood vessel
2	chr11:75524400-75525800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr11:75525000-75525800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:75525000-75525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:75525000-75525800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:75525000-75525800	Flanking Active TSS	NHEK	skin
7	chr11:75525000-75527200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:75525000-75527200	Active TSS	Fetal Brain Female	brain
9	chr11:75525200-75525800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:75525200-75525800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr11:75525200-75525800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:75525200-75525800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr11:75525200-75525800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:75525200-75525800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:75525200-75525800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr11:75525200-75525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:75525200-75525800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:75525200-75525800	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr11:75525200-75525800	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:75525200-75525800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:75525200-75525800	Flanking Active TSS	Dnd41	blood
22	chr11:75525200-75525800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:75525200-75525800	Flanking Active TSS	NH-A	brain
24	chr11:75525200-75525800	Flanking Active TSS	Osteobl	bone
25	chr11:75525200-75526000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:75525200-75526800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:75525200-75527200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:75525200-75527200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:75525200-75527200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:75525200-75527400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:75525200-75527400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:75525200-75527400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:75525200-75527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:75525200-75527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75525200-75527400	Active TSS	Colonic Mucosa	Colon
36	chr11:75525200-75527400	Active TSS	Right Ventricle	heart
37	chr11:75525200-75527600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:75525200-75527600	Active TSS	Left Ventricle	heart
39	chr11:75525200-75527600	Active TSS	Psoas Muscle	Psoas
40	chr11:75525200-75527600	Active TSS	Right Atrium	heart
41	chr11:75525200-75528000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:75525400-75525800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:75525400-75525800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:75525400-75525800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr11:75525400-75525800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:75525400-75525800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:75525400-75525800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:75525400-75525800	Flanking Active TSS	Liver	Liver
49	chr11:75525400-75525800	Flanking Active TSS	Fetal Thymus	thymus
50	chr11:75525400-75525800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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