Variant report

Variant	rs11826366
Chromosome Location	chr11:73099692-73099693
allele	C/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	REST	chr11:73099526-73100367	HL-60	blood:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
2	TFAP2C	chr11:73099581-73100815	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:73099539-73100754	ECC-1	luminal epithelium:	n/a	chr11:73100661-73100677 chr11:73100664-73100680 chr11:73100660-73100676
4	ELF1	chr11:73099623-73100205	GM12878	blood:	n/a	chr11:73100023-73100035 chr11:73099684-73099696
5	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73099641-73099996	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73099114-73099792	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73098060-73100184	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:73099181-73100150	GM12892	blood:	n/a	n/a
10	REST	chr11:73099651-73100180	PFSK-1	brain:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100097-73100106
11	FOXP2	chr11:73099638-73100025	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:73098540-73102525	A549	lung:	n/a	n/a
13	REST	chr11:73099617-73100287	PFSK-1	brain:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
14	TFAP2A	chr11:73099594-73100558	Hela-S3	cervix:	n/a	chr11:73099842-73099857 chr11:73100458-73100469 chr11:73099846-73099857 chr11:73099846-73099857 chr11:73100458-73100469 chr11:73099846-73099857 chr11:73099846-73099857
15	POLR2A	chr11:73098107-73100258	HL-60	blood:	n/a	n/a
16	POLR2A	chr11:73099216-73099988	HepG2	liver:	n/a	n/a
17	REST	chr11:73099550-73100282	PFSK-1	brain:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
18	POLR2A	chr11:73099615-73100038	H1-neurons	neurons:	n/a	n/a
19	MAX	chr11:73099362-73100560	A549	lung:	n/a	chr11:73099719-73099729
20	SPI1	chr11:73099542-73100151	HL-60	blood:	n/a	n/a
21	ZNF263	chr11:73098557-73100000	HEK293-T-REx	kidney:	n/a	chr11:73099713-73099722 chr11:73099482-73099491

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73017324..73020653-chr11:73098598..73101937,4	MCF-7	breast:
2	chr11:73098600..73102285-chr11:73102322..73106479,4	MCF-7	breast:

Variant related genes	Relation type
RELT	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12287163	0.89[AMR][1000 genomes]
rs57795042	0.87[AMR][1000 genomes]
rs58062099	0.89[AMR][1000 genomes]
rs59043885	0.87[AMR][1000 genomes]
rs60741352	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61528734	1.00[AMR][1000 genomes]
rs7104108	1.00[AMR][1000 genomes]
rs7104483	0.89[AMR][1000 genomes]
rs7939378	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73088400-73100200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:73088600-73100800	Enhancers	Placenta	Placenta
3	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:73090000-73101400	Enhancers	Adipose Nuclei	Adipose
6	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:73091200-73100200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:73091400-73100200	Enhancers	Fetal Thymus	thymus
9	chr11:73091600-73101600	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:73092600-73100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:73093600-73099800	Enhancers	Primary T cells from cord blood	blood
12	chr11:73095000-73103400	Weak transcription	Gastric	stomach
13	chr11:73095200-73100000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:73095200-73116200	Weak transcription	Liver	Liver
15	chr11:73095400-73103000	Weak transcription	NHLF	lung
16	chr11:73095800-73100000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:73095800-73100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:73096000-73099800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:73096000-73100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:73096200-73101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:73096400-73100000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:73096600-73100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:73096600-73104400	Weak transcription	Fetal Brain Male	brain
25	chr11:73096800-73099800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:73097000-73106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:73097200-73100800	Enhancers	HMEC	breast
28	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:73097400-73103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:73097400-73103600	Weak transcription	HepG2	liver
31	chr11:73097400-73103600	Weak transcription	Osteobl	bone
32	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:73097600-73100200	Enhancers	Fetal Stomach	stomach
35	chr11:73097600-73104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
38	chr11:73097800-73100200	Weak transcription	Brain Substantia Nigra	brain
39	chr11:73097800-73100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:73097800-73104000	Weak transcription	Brain Germinal Matrix	brain
41	chr11:73098000-73100400	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:73098000-73101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:73098000-73102200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:73098000-73104200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:73098200-73100000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:73098200-73100400	Enhancers	Lung	lung
47	chr11:73098200-73101200	Enhancers	Psoas Muscle	Psoas
48	chr11:73098400-73099800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:73098400-73100400	Enhancers	Right Atrium	heart
50	chr11:73098400-73100600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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