Variant report

Variant	rs11236797
Chromosome Location	chr11:76299649-76299650
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	CTCF	chr11:76299500-76299650	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr11:76299413-76299896	HUVEC	blood vessel:	n/a	chr11:76299770-76299780 chr11:76299639-76299648
3	POLR2A	chr11:76299280-76300445	HUVEC	blood vessel:	n/a	n/a
4	ELF1	chr11:76299544-76299804	K562	blood:	n/a	n/a
5	UBTF	chr11:76299581-76299869	K562	blood:	n/a	n/a
6	POLR2A	chr11:76299002-76300424	HUVEC	blood vessel:	n/a	n/a
7	UBTF	chr11:76299579-76299756	K562	blood:	n/a	n/a
8	MYC	chr11:76299474-76299875	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:76299326-76300516	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:76299440-76300341	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:76299287-76300339	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:76299248-76299973	HUVEC	blood vessel:	n/a	n/a
13	REST	chr11:76299492-76299919	PFSK-1	brain:	n/a	chr11:76299779-76299797
14	GATA2	chr11:76299490-76300183	HUVEC	blood vessel:	n/a	chr11:76299970-76299986 chr11:76299974-76299981 chr11:76299974-76299981 chr11:76299974-76299981 chr11:76299639-76299649
15	SPI1	chr11:76299626-76299767	K562	blood:	n/a	n/a
16	MAX	chr11:76299597-76299839	K562	blood:	n/a	n/a
17	ELF1	chr11:76299416-76299953	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76154912..76157253-chr11:76299607..76302337,2	K562	blood:

Variant related genes	Relation type
ENSG00000254755	TF binding region
ENSG00000255135	Chromatin interaction
ENSG00000158636	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10160518	0.84[EUR][1000 genomes]
rs11236791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155219	0.83[EUR][1000 genomes]
rs2212434	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4494327	0.81[EUR][1000 genomes]
rs61893460	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110818	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126418	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936070	0.80[ASN][1000 genomes]
rs7936312	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7936323	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7936434	0.81[AMR][1000 genomes];0.83[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	nsv518717	chr11:76288937-76310976	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76291600-76299800	Weak transcription	Lung	lung
2	chr11:76298200-76300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:76298200-76303200	Enhancers	Placenta	Placenta
4	chr11:76298200-76305000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr11:76298400-76301400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:76298600-76300000	Enhancers	Rectal Smooth Muscle	rectum
7	chr11:76298600-76300200	Enhancers	Primary B cells from cord blood	blood
8	chr11:76298600-76300200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:76298600-76300400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:76298600-76301000	Enhancers	HUVEC	blood vessel
11	chr11:76298800-76300200	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:76298800-76300200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:76298800-76300200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:76298800-76300400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:76298800-76300800	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:76299200-76299800	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:76299200-76299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:76299200-76300000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr11:76299200-76300000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:76299200-76300000	Enhancers	NHLF	lung
21	chr11:76299200-76300200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:76299200-76300200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:76299200-76300200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:76299200-76300400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:76299200-76300400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:76299200-76300400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:76299200-76300600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:76299200-76300800	Enhancers	Adipose Nuclei	Adipose
29	chr11:76299200-76301400	Enhancers	Fetal Muscle Leg	muscle
30	chr11:76299200-76301800	Enhancers	Fetal Stomach	stomach
31	chr11:76299200-76301800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:76299200-76302000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:76299400-76299800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:76299400-76299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:76299400-76299800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:76299400-76300200	Enhancers	NHDF-Ad	bronchial
37	chr11:76299400-76300800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:76299400-76301600	Enhancers	Right Atrium	heart
39	chr11:76299400-76303400	Enhancers	Spleen	Spleen
40	chr11:76299400-76304400	Enhancers	Fetal Thymus	thymus
41	chr11:76299600-76299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:76299600-76299800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:76299600-76299800	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:76299600-76300200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:76299600-76300600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:76299600-76300800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:76299600-76301200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:76299600-76301200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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