Variant report

Variant	rs11020767
Chromosome Location	chr11:94134803-94134804
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:94134792-94134992	Hela-S3	cervix:	n/a	n/a
2	CREB1	chr11:94134417-94134960	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:94134422-94134938	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:94134555-94134874	GM12878	blood:	n/a	n/a
5	SIN3A	chr11:94134367-94134916	H1-hESC	embryonic stem cell:	n/a	chr11:94134478-94134489
6	ZNF263	chr11:94134105-94134944	HEK293-T-REx	kidney:	n/a	n/a
7	POLR2A	chr11:94134326-94134917	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr11:94134020-94135115	H1-hESC	embryonic stem cell:	n/a	chr11:94134553-94134562
9	BACH1	chr11:94134393-94134848	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr11:94134794-94134908	HepG2	liver:	n/a	n/a
11	MAX	chr11:94134046-94135127	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:94134302-94134978	H1-neurons	neurons:	n/a	n/a
13	USF2	chr11:94134771-94134931	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr11:94134352-94134906	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr11:94134073-94135109	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr11:94133967-94135018	H1-hESC	embryonic stem cell:	n/a	chr11:94134001-94134011 chr11:94134553-94134562

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94134756-94134806	HCPEpiC	choroid plexus:	n/a
2	chr11:94134756-94134806	HRPEpiC	eye:	n/a
3	chr11:94134756-94134806	AG09319	gingival:	n/a
4	chr11:94134756-94134806	HCF	heart:	n/a
5	chr11:94134756-94134806	AG10803	skin:	n/a
6	chr11:94134756-94134806	LNCaP	prostate:	n/a
7	chr11:94134756-94134806	BE2_C	brain:	n/a
8	chr11:94134756-94134806	Hela-S3	cervix:	n/a
9	chr11:94134756-94134806	BJ	skin:	n/a
10	chr11:94134756-94134806	HNPCEpiC	eye:	n/a
11	chr11:94134756-94134806	SK-N-MC	brain:	n/a
12	chr11:94134756-94134806	CMK	blood:	n/a
13	chr11:94134756-94134806	ECC-1	luminal epithelium:	n/a
14	chr11:94134756-94134806	H1-hESC	embryonic stem cell:	embryo
15	chr11:94134756-94134806	NHDF-neo	bronchial:	n/a
16	chr11:94134756-94134806	AG04450	lung:	fetal
17	chr11:94134756-94134806	GM06990	blood:	n/a
18	chr11:94134756-94134806	GM12891	blood:	n/a
19	chr11:94134756-94134806	HEK293	kidney:	embryo
20	chr11:94134756-94134806	ovcar-3	ovarian:	n/a
21	chr11:94134756-94134806	SAEC	small airway:	n/a
22	chr11:94134756-94134806	MCF10A-Er-Src	breast:	n/a
23	chr11:94134756-94134806	T-47D	breast:	n/a
24	chr11:94134756-94134806	HAEpiC	amniotic membrane:	n/a
25	chr11:94134756-94134806	NB4	blood:	n/a
26	chr11:94134756-94134806	GM12892	blood:	n/a
27	chr11:94134756-94134806	Hepatocyte	liver:	n/a
28	chr11:94134756-94134806	NHBE	bronchial:	n/a
29	chr11:94134756-94134806	HL-60	blood:	n/a
30	chr11:94134756-94134806	SK-N-SH_RA	brain:	n/a
31	chr11:94134756-94134806	PrEC	prostate:	n/a
32	chr11:94134756-94134806	GM12878	blood:	n/a
33	chr11:94134756-94134806	HRCEpiC	kidney:	n/a
34	chr11:94134756-94134806	A549	lung:	n/a
35	chr11:94134756-94134806	HCM	heart:	n/a
36	chr11:94134756-94134806	HUVEC	blood vessel:	n/a
37	chr11:94134756-94134806	SK-N-SH	brain:	n/a
38	chr11:94134756-94134806	HepG2	liver:	n/a
39	chr11:94134756-94134806	NH-A	brain:	n/a
40	chr11:94134756-94134806	AG09309	skin:	n/a
41	chr11:94134756-94134806	ProgFib	skin:	n/a
42	chr11:94134756-94134806	HIPEpiC	eye:	n/a
43	chr11:94134756-94134806	U87	brain:	n/a
44	chr11:94134756-94134806	Jurkat	blood:	n/a
45	chr11:94134756-94134806	SKMC	muscle:	n/a
46	chr11:94134756-94134806	RPTEC	kidney:	n/a
47	chr11:94134756-94134806	MCF-7	breast:	n/a
48	chr11:94134756-94134806	HMEC	breast:	n/a
49	chr11:94134756-94134806	GM19239	blood:	n/a
50	chr11:94134756-94134806	IMR90	lung:	fetal

No data

Variant related genes	Relation type
GPR83	TF binding region
GPR83	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13447646	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs512150	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs516381	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs521669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs522596	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs540514	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs547289	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs552126	0.92[EUR][1000 genomes]
rs581002	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs584707	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs598599	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs603937	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs607146	0.83[AMR][1000 genomes]
rs607974	0.81[EUR][1000 genomes]
rs640627	0.86[EUR][1000 genomes]
rs663530	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs687109	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7110046	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs11020767	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs11020767	MRE11A	cis	Esophagus Muscularis	GTEx
rs11020767	MRE11A	cis	Esophagus Mucosa	GTEx
rs11020767	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs11020767	MRE11A	cis	lung	GTEx
rs11020767	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11020767	MRE11A	cis	Thyroid	GTEx
rs11020767	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs11020767	MRE11A	cis	Artery Tibial	GTEx
rs11020767	MRE11A	cis	Nerve Tibial	GTEx
rs11020767	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs11020767	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs11020767	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs11020767	RP11-685N10.1	cis	Artery Tibial	GTEx
rs11020767	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs11020767	MRE11A	cis	Adipose Subcutaneous	GTEx
rs11020767	RP11-685N10.1	cis	lung	GTEx
rs11020767	MRE11A	cis	Stomach	GTEx
rs11020767	RP11-685N10.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94132600-94135200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
2	chr11:94133000-94135000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr11:94133400-94135000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:94133800-94135000	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr11:94133800-94135000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr11:94133800-94135200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:94133800-94135200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:94133800-94135200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr11:94133800-94135400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:94133800-94135600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:94134000-94135000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:94134000-94135000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:94134000-94135000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:94134000-94135000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:94134000-94135000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:94134000-94135000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
17	chr11:94134000-94135000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:94134000-94135000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:94134000-94135000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:94134000-94135000	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr11:94134000-94135000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
22	chr11:94134000-94135000	Bivalent/Poised TSS	HSMM	muscle
23	chr11:94134000-94135000	Bivalent/Poised TSS	HSMMtube	muscle
24	chr11:94134000-94135000	Bivalent/Poised TSS	NH-A	brain
25	chr11:94134000-94135000	Bivalent/Poised TSS	NHLF	lung
26	chr11:94134000-94135000	Bivalent/Poised TSS	Osteobl	bone
27	chr11:94134000-94135200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:94134000-94135200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:94134000-94135200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:94134000-94135200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:94134200-94135000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:94134200-94135000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr11:94134200-94135000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:94134200-94135000	Active TSS	Brain Anterior Caudate	brain
46	chr11:94134200-94135000	Bivalent Enhancer	Fetal Heart	heart
47	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr11:94134200-94135000	Bivalent Enhancer	Lung	lung
49	chr11:94134200-94135000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr11:94134200-94135000	Bivalent/Poised TSS	A549	lung

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