Variant report

Variant	rs12224988
Chromosome Location	chr11:75859417-75859418
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	chr11:75858885..75860766-chr11:75865503..75867457,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11236626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12222319	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223796	0.99[ASN][1000 genomes]
rs2851570	0.90[EUR][1000 genomes]
rs35031069	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4477460	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs612221	0.90[EUR][1000 genomes]
rs7129111	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71469506	0.96[AMR][1000 genomes];0.88[EUR][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:96 , 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	chr11:75833000-75862800	Weak transcription	K562	blood
4	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:75843600-75862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:75843800-75859800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:75844000-75861200	Weak transcription	NHEK	skin
13	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
15	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
16	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
17	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:75851600-75863200	Weak transcription	NH-A	brain
19	chr11:75852000-75862200	Weak transcription	Aorta	Aorta
20	chr11:75852000-75863000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:75852600-75863000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:75852800-75862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:75853200-75862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:75853200-75863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:75853400-75863000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:75853600-75863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:75853600-75863000	Weak transcription	Osteobl	bone
28	chr11:75854000-75860400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:75854000-75863000	Weak transcription	Fetal Thymus	thymus
30	chr11:75854000-75863400	Weak transcription	Fetal Brain Female	brain
31	chr11:75854200-75862800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:75854200-75863000	Weak transcription	Ovary	ovary
33	chr11:75854200-75863200	Weak transcription	Primary T cells from cord blood	blood
34	chr11:75854200-75863200	Weak transcription	Brain Substantia Nigra	brain
35	chr11:75854200-75863600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:75854400-75862800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:75854400-75862800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:75854400-75863000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:75854400-75863000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:75854400-75863000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:75854400-75863200	Weak transcription	Spleen	Spleen
42	chr11:75854600-75862800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75854600-75862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:75854600-75863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:75854600-75863000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:75854600-75863000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:75854600-75863000	Weak transcription	Primary B cells from cord blood	blood
48	chr11:75854600-75863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:75854600-75863000	Weak transcription	Liver	Liver
50	chr11:75854600-75863000	Weak transcription	Brain Cingulate Gyrus	brain

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