Variant report

Variant	rs73480998
Chromosome Location	chr11:33723744-33723745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33721866-33724317	U87	brain:	n/a	n/a
2	STAT3	chr11:33722140-33724183	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
3	MAX	chr11:33722033-33724028	A549	lung:	n/a	chr11:33722471-33722481
4	POLR2A	chr11:33722077-33723793	U87	brain:	n/a	n/a
5	POLR2A	chr11:33722124-33725044	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
7	NR3C1	chr11:33722832-33723772	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
8	POLR2A	chr11:33723247-33723877	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:33722085-33723937	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:33722071-33724569	PANC-1	pancreas:	n/a	n/a
11	NR3C1	chr11:33722814-33723753	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
12	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
13	MYC	chr11:33722403-33723852	MCF10A-Er-Src	breast:	n/a	chr11:33722471-33722481
14	POLR2A	chr11:33722150-33723918	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:33722026-33728243	PANC-1	pancreas:	n/a	n/a
16	NR3C1	chr11:33722333-33723779	A549	lung:	n/a	chr11:33723493-33723507 chr11:33722695-33722712 chr11:33723089-33723103
17	POLR2A	chr11:33722064-33723793	U87	brain:	n/a	n/a
18	FOS	chr11:33722382-33723859	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr11:33723422-33723829	HepG2	liver:	n/a	n/a
20	FOS	chr11:33722571-33723808	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:33721829-33723970	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:33722079-33723976	Hela-S3	cervix:	n/a	n/a
23	GATA2	chr11:33722458-33724019	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:33723731-33723754	MCF-7	breast:	n/a	n/a
25	FOS	chr11:33722416-33723817	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr11:33723390-33723828	GM12878	blood:	n/a	n/a
27	STAT3	chr11:33722163-33723852	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
28	MYC	chr11:33723507-33723877	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr11:33723319-33723808	A549	lung:	n/a	n/a
30	NR3C1	chr11:33722868-33723747	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
31	POLR2A	chr11:33721095-33724992	IMR90	lung:	n/a	n/a
32	FOXA1	chr11:33723358-33723813	A549	lung:	n/a	n/a
33	PBX3	chr11:33722065-33723906	SK-N-SH	brain:	n/a	n/a
34	FOXA1	chr11:33723408-33723822	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:33721702-33723922	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:33722166-33724517	K562	blood:	n/a	n/a
37	POLR2A	chr11:33720387-33727134	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:33720456-33724621	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr11:33722064-33724499	HUVEC	blood vessel:	n/a	n/a
40	NR3C1	chr11:33723328-33723786	A549	lung:	n/a	chr11:33723493-33723507
41	FOXA1	chr11:33723311-33723782	A549	lung:	n/a	n/a
42	STAT3	chr11:33722167-33723847	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
43	POLR2A	chr11:33721912-33724377	U87	brain:	n/a	n/a
44	POLR2A	chr11:33723428-33723793	A549	lung:	n/a	n/a
45	MAZ	chr11:33720748-33724556	IMR90	lung:	n/a	chr11:33722471-33722481
46	POLR2A	chr11:33722127-33724520	A549	lung:	n/a	n/a
47	POLR2A	chr11:33720521-33727789	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr11:33723370-33723951	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33723723-33723773	ProgFib	skin:	n/a
2	chr11:33723723-33723773	ECC-1	luminal epithelium:	n/a
3	chr11:33723723-33723773	CMK	blood:	n/a
4	chr11:33723723-33723773	BE2_C	brain:	n/a
5	chr11:33723723-33723773	Hela-S3	cervix:	n/a
6	chr11:33723723-33723773	AG10803	skin:	n/a
7	chr11:33723723-33723773	MCF-7	breast:	n/a
8	chr11:33723723-33723773	SAEC	small airway:	n/a
9	chr11:33723723-33723773	H1-hESC	embryonic stem cell:	embryo
10	chr11:33723723-33723773	HCPEpiC	choroid plexus:	n/a
11	chr11:33723723-33723773	HRCEpiC	kidney:	n/a
12	chr11:33723723-33723773	ovcar-3	ovarian:	n/a
13	chr11:33723723-33723773	Hepatocyte	liver:	n/a
14	chr11:33723723-33723773	AG04449	skin:	fetal
15	chr11:33723723-33723773	AG09309	skin:	n/a
16	chr11:33723723-33723773	AG09319	gingival:	n/a
17	chr11:33723723-33723773	NH-A	brain:	n/a
18	chr11:33723723-33723773	HIPEpiC	eye:	n/a
19	chr11:33723723-33723773	SK-N-SH	brain:	n/a
20	chr11:33723723-33723773	NB4	blood:	n/a
21	chr11:33723723-33723773	HCT-116	colon:	n/a
22	chr11:33723723-33723773	PrEC	prostate:	n/a
23	chr11:33723723-33723773	RPTEC	kidney:	n/a
24	chr11:33723723-33723773	GM12891	blood:	n/a
25	chr11:33723723-33723773	HRE	kidney:	n/a
26	chr11:33723723-33723773	Caco-2	colon:	n/a
27	chr11:33723723-33723773	BJ	skin:	n/a
28	chr11:33723723-33723773	HMEC	breast:	n/a
29	chr11:33723723-33723773	HAEpiC	amniotic membrane:	n/a
30	chr11:33723723-33723773	NT2-D1	testis:	n/a
31	chr11:33723723-33723773	A549	lung:	n/a
32	chr11:33723723-33723773	HepG2	liver:	n/a
33	chr11:33723723-33723773	HUVEC	blood vessel:	n/a
34	chr11:33723723-33723773	AoSMC	blood vessel:	n/a
35	chr11:33723723-33723773	AG04450	lung:	fetal
36	chr11:33723723-33723773	HNPCEpiC	eye:	n/a
37	chr11:33723723-33723773	HRPEpiC	eye:	n/a
38	chr11:33723723-33723773	GM12892	blood:	n/a
39	chr11:33723723-33723773	HEK293	kidney:	embryo
40	chr11:33723723-33723773	MCF10A-Er-Src	breast:	n/a
41	chr11:33723723-33723773	HCM	heart:	n/a
42	chr11:33723723-33723773	Jurkat	blood:	n/a
43	chr11:33723723-33723773	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:33723723-33723773	U87	brain:	n/a
45	chr11:33723723-33723773	IMR90	lung:	fetal
46	chr11:33723723-33723773	PANC-1	pancreas:	n/a
47	chr11:33723723-33723773	NHDF-neo	bronchial:	n/a
48	chr11:33723723-33723773	GM19239	blood:	n/a
49	chr11:33723723-33723773	SKMC	muscle:	n/a
50	chr11:33723723-33723773	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33722591..33725977-chr11:33729219..33731745,3	MCF-7	breast:
2	chr11:33722397..33723935-chr11:33724881..33726688,2	K562	blood:
3	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
4	chr11:33722379..33724106-chr11:33727718..33730003,2	K562	blood:
5	chr11:33722652..33724426-chr11:33725685..33727649,2	MCF-7	breast:
6	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
7	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
8	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:

No data

Variant related genes	Relation type
C11orf91	TF binding region
C11orf91	CpG island
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2231461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59550508	0.95[EUR][1000 genomes]
rs60666954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73481002	0.96[AFR][1000 genomes]
rs73482903	0.93[AFR][1000 genomes]
rs73482907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482921	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33722200-33723800	Flanking Active TSS	HMEC	breast
3	chr11:33722400-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:33722600-33723800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr11:33722600-33723800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr11:33722600-33723800	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr11:33722600-33723800	Flanking Active TSS	HUVEC	blood vessel
8	chr11:33722600-33723800	Flanking Active TSS	NHEK	skin
9	chr11:33722800-33723800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:33722800-33723800	Enhancers	Pancreas	Pancrea
11	chr11:33722800-33723800	Flanking Active TSS	A549	lung
12	chr11:33722800-33723800	Flanking Active TSS	Hela-S3	cervix
13	chr11:33722800-33724000	Enhancers	Placenta	Placenta
14	chr11:33722800-33725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:33722800-33728600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:33722800-33730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:33723000-33723800	Enhancers	Right Ventricle	heart
18	chr11:33723000-33723800	Enhancers	K562	blood
19	chr11:33723000-33724000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:33723000-33724000	Enhancers	Fetal Thymus	thymus
21	chr11:33723000-33724200	Enhancers	Left Ventricle	heart
22	chr11:33723000-33724400	Enhancers	Fetal Stomach	stomach
23	chr11:33723000-33725800	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:33723000-33726000	Enhancers	Fetal Intestine Small	intestine
25	chr11:33723000-33726000	Enhancers	Small Intestine	intestine
26	chr11:33723000-33726400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:33723000-33726400	Enhancers	Fetal Intestine Large	intestine
28	chr11:33723000-33730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:33723200-33723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:33723200-33723800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:33723200-33723800	Enhancers	Liver	Liver
33	chr11:33723200-33723800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:33723200-33723800	Enhancers	Fetal Heart	heart
35	chr11:33723200-33723800	Enhancers	Fetal Kidney	kidney
36	chr11:33723200-33723800	Enhancers	Thymus	Thymus
37	chr11:33723200-33724000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:33723200-33724000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:33723200-33724000	Enhancers	Fetal Muscle Leg	muscle
40	chr11:33723200-33724200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:33723200-33724200	Enhancers	Adipose Nuclei	Adipose
42	chr11:33723200-33724200	Enhancers	Psoas Muscle	Psoas
43	chr11:33723200-33724400	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:33723200-33724400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:33723200-33724400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:33723200-33724600	Enhancers	Fetal Lung	lung
47	chr11:33723200-33724800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:33723200-33725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:33723200-33725000	Weak transcription	Gastric	stomach
50	chr11:33723200-33725400	Weak transcription	Fetal Muscle Trunk	muscle

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