Variant report

Variant	rs547127884
Chromosome Location	chr11:75526169-75526170
allele	A/C
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	POLR2A	chr11:75526024-75526465	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr11:75525435-75526435	SK-N-SH	brain:	n/a	chr11:75525889-75525898
4	TAF1	chr11:75526051-75526561	HepG2	liver:	n/a	n/a
5	MAX	chr11:75525291-75526474	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
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	STAT1	chr11:75525513-75526496	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr11:75525519-75526603	SK-N-SH	brain:	n/a	n/a
13	MAX	chr11:75525474-75526177	K562	blood:	n/a	n/a
14	POLR2A	chr11:75525964-75526445	U87	brain:	n/a	n/a
15	POLR2A	chr11:75526062-75526692	A549	lung:	n/a	n/a
16	FOSL2	chr11:75525712-75526388	A549	lung:	n/a	chr11:75526209-75526218
17	POLR2A	chr11:75526049-75526480	HepG2	liver:	n/a	n/a
18	WRNIP1	chr11:75525566-75526254	GM12878	blood:	n/a	n/a
19	CEBPB	chr11:75525903-75526245	H1-hESC	embryonic stem cell:	n/a	chr11:75526208-75526216
20	MAX	chr11:75525574-75526244	A549	lung:	n/a	n/a
21	SMC3	chr11:75525562-75526257	Hela-S3	cervix:	n/a	chr11:75525880-75525890
22	IRF3	chr11:75525954-75526296	HepG2	liver:	n/a	chr11:75526184-75526198
23	JUND	chr11:75525452-75526521	K562	blood:	n/a	chr11:75526209-75526218 chr11:75526420-75526429
24	TAF1	chr11:75526117-75526578	GM12892	blood:	n/a	n/a
25	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
26	SP1	chr11:75525668-75526373	HepG2	liver:	n/a	chr11:75525877-75525891 chr11:75525931-75525943 chr11:75525932-75525942 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
27	STAT3	chr11:75525748-75526271	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:75525408-75526999	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:75526048-75526578	Gliobla	brain:	n/a	n/a
30	ELF1	chr11:75525501-75526308	A549	lung:	n/a	n/a
31	PBX3	chr11:75525670-75526494	A549	lung:	n/a	chr11:75526208-75526217 chr11:75526141-75526161
32	USF1	chr11:75525354-75526572	HCT-116	colon:	n/a	chr11:75525889-75525898
33	POLR2A	chr11:75524557-75526832	HUVEC	blood vessel:	n/a	n/a
34	RELA	chr11:75525552-75526351	GM19099	blood:	n/a	n/a
35	POLR2A	chr11:75526151-75526395	HepG2	liver:	n/a	n/a
36	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
37	RCOR1	chr11:75525500-75526789	GM12878	blood:	n/a	n/a
38	MAFK	chr11:75525966-75526197	HepG2	liver:	n/a	n/a
39	NANOG	chr11:75526008-75526366	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOXA2	chr11:75526000-75526557	A549	lung:	n/a	n/a
41	ZBTB7A	chr11:75525598-75527073	K562	blood:	n/a	chr11:75526167-75526174
42	CHD2	chr11:75525474-75526983	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr11:75525716-75526382	H1-hESC	embryonic stem cell:	n/a	n/a
44	PBX3	chr11:75525715-75526492	A549	lung:	n/a	chr11:75526208-75526217 chr11:75526141-75526161
45	POLR2A	chr11:75525578-75526610	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:75525414-75527015	K562	blood:	n/a	n/a
47	E2F6	chr11:75525415-75526367	K562	blood:	n/a	chr11:75525874-75525885 chr11:75525875-75525887
48	USF1	chr11:75525324-75526483	ECC-1	luminal epithelium:	n/a	chr11:75525889-75525898
49	POLR2A	chr11:75525302-75527172	GM12892	blood:	n/a	n/a
50	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75526167-75526217	HCF	heart:	n/a
2	chr11:75526167-75526217	GM19239	blood:	n/a
3	chr11:75526167-75526217	NT2-D1	testis:	n/a
4	chr11:75526167-75526217	AG04450	lung:	fetal
5	chr11:75526167-75526217	BJ	skin:	n/a
6	chr11:75526167-75526217	SK-N-SH_RA	brain:	n/a
7	chr11:75526167-75526217	HRCEpiC	kidney:	n/a
8	chr11:75526167-75526217	Hepatocyte	liver:	n/a
9	chr11:75526167-75526217	HMEC	breast:	n/a
10	chr11:75526167-75526217	T-47D	breast:	n/a
11	chr11:75526167-75526217	H1-hESC	embryonic stem cell:	embryo
12	chr11:75526167-75526217	ProgFib	skin:	n/a
13	chr11:75526167-75526217	GM12892	blood:	n/a
14	chr11:75526167-75526217	BE2_C	brain:	n/a
15	chr11:75526167-75526217	LNCaP	prostate:	n/a
16	chr11:75526167-75526217	PFSK-1	brain:	n/a
17	chr11:75526167-75526217	HRPEpiC	eye:	n/a
18	chr11:75526167-75526217	MCF-7	breast:	n/a
19	chr11:75526167-75526217	NH-A	brain:	n/a
20	chr11:75526167-75526217	HNPCEpiC	eye:	n/a
21	chr11:75526167-75526217	AG09319	gingival:	n/a
22	chr11:75526167-75526217	Jurkat	blood:	n/a
23	chr11:75526167-75526217	SAEC	small airway:	n/a
24	chr11:75526167-75526217	ovcar-3	ovarian:	n/a
25	chr11:75526167-75526217	HUVEC	blood vessel:	n/a
26	chr11:75526167-75526217	HIPEpiC	eye:	n/a
27	chr11:75526167-75526217	HCT-116	colon:	n/a
28	chr11:75526167-75526217	AoSMC	blood vessel:	n/a
29	chr11:75526167-75526217	HCM	heart:	n/a
30	chr11:75526167-75526217	ECC-1	luminal epithelium:	n/a
31	chr11:75526167-75526217	SKMC	muscle:	n/a
32	chr11:75526167-75526217	HepG2	liver:	n/a
33	chr11:75526167-75526217	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:75526167-75526217	A549	lung:	n/a
35	chr11:75526167-75526217	HCPEpiC	choroid plexus:	n/a
36	chr11:75526167-75526217	NB4	blood:	n/a
37	chr11:75526167-75526217	GM12891	blood:	n/a
38	chr11:75526167-75526217	Hela-S3	cervix:	n/a
39	chr11:75526167-75526217	Caco-2	colon:	n/a
40	chr11:75526167-75526217	GM12878	blood:	n/a
41	chr11:75526167-75526217	HEEpiC	esophagus:	n/a
42	chr11:75526167-75526217	HEK293	kidney:	embryo
43	chr11:75526167-75526217	SK-N-MC	brain:	n/a
44	chr11:75526167-75526217	MCF10A-Er-Src	breast:	n/a
45	chr11:75526167-75526217	CMK	blood:	n/a
46	chr11:75526167-75526217	AG09309	skin:	n/a
47	chr11:75526167-75526217	U87	brain:	n/a
48	chr11:75526167-75526217	NHDF-neo	bronchial:	n/a
49	chr11:75526167-75526217	GM06990	blood:	n/a
50	chr11:75526167-75526217	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75512671..75516260-chr11:75524397..75526274,3	MCF-7	breast:
2	chr11:62609082..62609630-chr11:75526087..75526869,2	NB4	blood:
3	chr11:75270417..75273210-chr11:75525682..75528337,2	MCF-7	breast:
4	chr11:75521352..75523071-chr11:75525241..75527592,2	MCF-7	breast:
5	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
6	chr11:75114198..75116876-chr11:75524077..75526236,2	K562	blood:
7	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
8	chr11:75525985..75528745-chr11:75547051..75549081,2	MCF-7	breast:
9	chr11:74203709..74204682-chr11:75526078..75526626,2	Hela-S3	cervix:
10	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
11	chr11:75526021..75526721-chr4:128885828..128886522,2	Hela-S3	cervix:
12	chr11:75501690..75503528-chr11:75525644..75528441,2	K562	blood:
13	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
14	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:
15	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
16	chr11:75526100..75526653-chr7:99155687..99156498,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP6-4	chr11:75526151-75526451	ENSG00000255507.1

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	TF binding region
UVRAG	CpG island
ENSG00000255507	CpG island
ENSG00000207445	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000254814	Chromatin interaction
ENSG00000164074	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000247867	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000199362	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000133316	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	chr11:75525000-75527200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:75525000-75527200	Active TSS	Fetal Brain Female	brain
3	chr11:75525200-75526800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:75525200-75527200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:75525200-75527200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:75525200-75527200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:75525200-75527400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:75525200-75527400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:75525200-75527400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:75525200-75527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:75525200-75527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:75525200-75527400	Active TSS	Colonic Mucosa	Colon
13	chr11:75525200-75527400	Active TSS	Right Ventricle	heart
14	chr11:75525200-75527600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:75525200-75527600	Active TSS	Left Ventricle	heart
16	chr11:75525200-75527600	Active TSS	Psoas Muscle	Psoas
17	chr11:75525200-75527600	Active TSS	Right Atrium	heart
18	chr11:75525200-75528000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:75525400-75526400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:75525400-75527000	Bivalent/Poised TSS	HepG2	liver
21	chr11:75525400-75527200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:75525400-75527200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:75525400-75527200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:75525400-75527200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:75525400-75527200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:75525400-75527200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:75525400-75527200	Active TSS	Fetal Kidney	kidney
28	chr11:75525400-75527200	Active TSS	Small Intestine	intestine
29	chr11:75525400-75527400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:75525400-75527400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:75525400-75527400	Active TSS	Fetal Intestine Small	intestine
32	chr11:75525400-75527600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:75525400-75527600	Active TSS	Gastric	stomach
34	chr11:75525400-75527600	Active TSS	Ovary	ovary
35	chr11:75525400-75527800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:75525400-75528400	Active TSS	Lung	lung
37	chr11:75525600-75526400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:75525600-75526400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:75525600-75526400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:75525600-75526400	Active TSS	Brain Germinal Matrix	brain
41	chr11:75525600-75526800	Active TSS	Primary B cells from cord blood	blood
42	chr11:75525600-75526800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
43	chr11:75525600-75526800	Active TSS	Fetal Brain Male	brain
44	chr11:75525600-75527000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:75525600-75527000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:75525600-75527000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:75525600-75527000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:75525600-75527000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:75525600-75527000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:75525600-75527000	Active TSS	Cortex derived primary cultured neurospheres	brain

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