Variant report

Variant	rs1219539
Chromosome Location	chr11:75433144-75433145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75427256..75429895-chr11:75431498..75434297,2	K562	blood:

Variant related genes	Relation type
ENSG00000166391	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10793123	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899101	0.87[ASN][1000 genomes]
rs10899102	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236498	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1145700	0.86[EUR][1000 genomes]
rs1219536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1219537	0.87[EUR][1000 genomes]
rs1219538	0.87[EUR][1000 genomes]
rs1238914	0.88[EUR][1000 genomes]
rs17245228	0.89[ASN][1000 genomes]
rs473013	0.87[EUR][1000 genomes]
rs473791	0.87[EUR][1000 genomes]
rs554202	0.88[EUR][1000 genomes]
rs623693	0.88[EUR][1000 genomes]
rs650861	0.87[EUR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75429600-75439600	Weak transcription	Fetal Stomach	stomach
2	chr11:75429800-75436800	Weak transcription	Right Atrium	heart
3	chr11:75430200-75436800	Weak transcription	Right Ventricle	heart
4	chr11:75430400-75433600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:75430400-75434800	Weak transcription	Fetal Heart	heart
6	chr11:75430600-75433800	Weak transcription	GM12878-XiMat	blood
7	chr11:75431000-75433200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:75431000-75439800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:75431200-75433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:75431200-75434000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr11:75431200-75436800	Weak transcription	Left Ventricle	heart
12	chr11:75431200-75437000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:75432200-75433600	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr11:75432400-75433400	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:75432600-75433600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:75432600-75433600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:75432600-75433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:75432600-75433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:75432600-75434000	Enhancers	Adipose Nuclei	Adipose
20	chr11:75432600-75434000	Flanking Active TSS	Liver	Liver
21	chr11:75432600-75434000	Flanking Active TSS	HepG2	liver
22	chr11:75432600-75435200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:75432800-75433200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:75432800-75433200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:75432800-75433200	Flanking Active TSS	Colonic Mucosa	Colon
26	chr11:75432800-75433600	Enhancers	Spleen	Spleen
27	chr11:75432800-75433800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:75432800-75433800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:75432800-75434000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:75432800-75434000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr11:75432800-75434000	Enhancers	Fetal Thymus	thymus
32	chr11:75433000-75433400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:75433000-75433800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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