Variant report

Variant	rs612221
Chromosome Location	chr11:75862661-75862662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11236626	0.83[EUR][1000 genomes]
rs12222319	0.85[EUR][1000 genomes]
rs12224988	0.90[EUR][1000 genomes]
rs2851570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35031069	0.90[EUR][1000 genomes]
rs4477460	0.85[EUR][1000 genomes]
rs593570	0.83[ASN][1000 genomes]
rs605771	0.82[ASN][1000 genomes]
rs625232	0.84[ASN][1000 genomes]
rs7129111	0.86[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	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
5	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
2	chr11:75833000-75862800	Weak transcription	K562	blood
3	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
11	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
12	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
13	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:75851600-75863200	Weak transcription	NH-A	brain
15	chr11:75852000-75863000	Weak transcription	Brain Anterior Caudate	brain
16	chr11:75852600-75863000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:75852800-75862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:75853200-75862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:75853200-75863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:75853400-75863000	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:75853600-75863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:75853600-75863000	Weak transcription	Osteobl	bone
23	chr11:75854000-75863000	Weak transcription	Fetal Thymus	thymus
24	chr11:75854000-75863400	Weak transcription	Fetal Brain Female	brain
25	chr11:75854200-75862800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:75854200-75863000	Weak transcription	Ovary	ovary
27	chr11:75854200-75863200	Weak transcription	Primary T cells from cord blood	blood
28	chr11:75854200-75863200	Weak transcription	Brain Substantia Nigra	brain
29	chr11:75854200-75863600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:75854400-75862800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:75854400-75862800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:75854400-75863000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:75854400-75863000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:75854400-75863000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:75854400-75863200	Weak transcription	Spleen	Spleen
36	chr11:75854600-75862800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:75854600-75862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:75854600-75863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:75854600-75863000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:75854600-75863000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:75854600-75863000	Weak transcription	Primary B cells from cord blood	blood
42	chr11:75854600-75863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:75854600-75863000	Weak transcription	Liver	Liver
44	chr11:75854600-75863000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:75854600-75863000	Weak transcription	Brain Germinal Matrix	brain
46	chr11:75854600-75863000	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:75854600-75863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:75854600-75863000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:75854600-75863000	Weak transcription	Fetal Stomach	stomach
50	chr11:75854600-75863000	Weak transcription	Right Ventricle	heart

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