Variant report

Variant	rs57208533
Chromosome Location	chr11:75857714-75857715
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	chr11:75857248..75857816-chr11:76029548..76030103,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17134603	0.93[EUR][1000 genomes]
rs59400584	0.93[EUR][1000 genomes]
rs7113747	0.82[ASN][1000 genomes]
rs7117041	0.82[ASN][1000 genomes]
rs7120552	0.81[ASN][1000 genomes]
rs7121451	0.93[EUR][1000 genomes]
rs7929083	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946784	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv394	chr11:75820547-75865777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1051472	chr11:75851880-75922608	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv515484	chr11:75854235-75862571	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1037940	chr11:75855316-75909619	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
2	chr11:75832000-75861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:75832800-75859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:75833000-75862800	Weak transcription	K562	blood
5	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:75839800-75858000	Weak transcription	Pancreas	Pancrea
8	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:75843200-75859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:75843400-75858000	Weak transcription	Right Atrium	heart
11	chr11:75843600-75862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:75843800-75859800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:75844000-75861200	Weak transcription	NHEK	skin
17	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
19	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
20	chr11:75849400-75858000	Weak transcription	Fetal Brain Male	brain
21	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
22	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:75851600-75863200	Weak transcription	NH-A	brain
24	chr11:75852000-75862200	Weak transcription	Aorta	Aorta
25	chr11:75852000-75863000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:75852400-75858200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:75852600-75857800	Weak transcription	Fetal Lung	lung
28	chr11:75852600-75859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:75852600-75863000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:75852800-75862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:75853000-75858000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:75853000-75858000	Weak transcription	Small Intestine	intestine
33	chr11:75853200-75858200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:75853200-75858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:75853200-75862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:75853200-75863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:75853400-75863000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:75853600-75863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:75853600-75863000	Weak transcription	Osteobl	bone
40	chr11:75854000-75860400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:75854000-75863000	Weak transcription	Fetal Thymus	thymus
42	chr11:75854000-75863400	Weak transcription	Fetal Brain Female	brain
43	chr11:75854200-75862800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:75854200-75863000	Weak transcription	Ovary	ovary
45	chr11:75854200-75863200	Weak transcription	Primary T cells from cord blood	blood
46	chr11:75854200-75863200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:75854200-75863600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:75854400-75858000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:75854400-75859400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:75854400-75862800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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