Variant report

Variant	rs1824279
Chromosome Location	chr11:86271352-86271353
allele	C/G
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	GATA2	chr11:86270278-86271436	HUVEC	blood vessel:	n/a	chr11:86270875-86270885 chr11:86270959-86270968 chr11:86270423-86270439 chr11:86270423-86270439

Variant related genes	Relation type
ME3	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10792857	0.94[ASN][1000 genomes]
rs10898501	0.92[ASN][1000 genomes]
rs1350478	0.91[ASN][1000 genomes]
rs1945036	0.94[ASN][1000 genomes]
rs34868765	0.91[ASN][1000 genomes]
rs4144867	0.94[ASN][1000 genomes]
rs4391846	0.94[ASN][1000 genomes]
rs4944594	0.92[ASN][1000 genomes]
rs4944596	0.94[ASN][1000 genomes]
rs4944597	0.94[ASN][1000 genomes]
rs7103271	0.80[ASN][1000 genomes]
rs7127944	0.94[ASN][1000 genomes]
rs7940192	0.94[ASN][1000 genomes]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
3	chr11:86266400-86278200	Weak transcription	A549	lung
4	chr11:86268600-86271400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:86269000-86271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:86269200-86271400	Enhancers	HMEC	breast
7	chr11:86269400-86271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:86269400-86271400	Enhancers	Ovary	ovary
9	chr11:86269400-86271400	Enhancers	HSMM	muscle
10	chr11:86269400-86271400	Enhancers	HUVEC	blood vessel
11	chr11:86269600-86271400	Enhancers	Fetal Intestine Small	intestine
12	chr11:86269800-86272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:86270000-86271400	Enhancers	Placenta	Placenta
14	chr11:86270000-86271400	Enhancers	Psoas Muscle	Psoas
15	chr11:86270000-86272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:86270400-86276400	Weak transcription	Fetal Brain Female	brain
17	chr11:86270400-86281200	Weak transcription	Colonic Mucosa	Colon
18	chr11:86270600-86271400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:86270600-86276400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:86270800-86272800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:86271000-86271400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:86271000-86271400	Enhancers	Osteobl	bone
23	chr11:86271000-86276000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:86271000-86276200	Weak transcription	Fetal Stomach	stomach
25	chr11:86271000-86276200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:86271000-86276800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:86271000-86277000	Weak transcription	Lung	lung
28	chr11:86271000-86277800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:86271000-86278000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:86271000-86279600	Weak transcription	Left Ventricle	heart
31	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
33	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
34	chr11:86271000-86291200	Weak transcription	Gastric	stomach
35	chr11:86271200-86272200	Weak transcription	Fetal Intestine Large	intestine

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