Variant report

Variant	rs12577446
Chromosome Location	chr11:33644642-33644643
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	chr11:33639712..33641762-chr11:33643100..33644997,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12574877	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577755	0.82[ASN][1000 genomes]
rs16924503	0.96[EUR][1000 genomes]
rs35067732	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55643801	0.86[EUR][1000 genomes]
rs55809805	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116148	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7120970	0.86[ASN][1000 genomes]
rs7121042	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72918743	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72918753	0.81[ASN][1000 genomes]
rs7947213	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947399	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949605	0.81[ASN][1000 genomes]
rs9737368	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33633800-33652400	Weak transcription	Fetal Brain Female	brain
2	chr11:33635000-33644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:33638800-33644800	Enhancers	HMEC	breast
4	chr11:33640600-33666400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:33640800-33645400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:33640800-33673600	Weak transcription	Fetal Brain Male	brain
7	chr11:33641400-33645000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:33642400-33644800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:33642600-33673600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:33642800-33645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:33642800-33657400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:33643000-33645400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:33643000-33645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:33643000-33673600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:33643200-33646000	Enhancers	Fetal Muscle Leg	muscle
16	chr11:33643800-33645000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:33643800-33646000	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:33643800-33646000	Enhancers	GM12878-XiMat	blood
19	chr11:33644200-33644800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:33644200-33645400	Weak transcription	HSMMtube	muscle
21	chr11:33644200-33646000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:33644400-33644800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:33644400-33645400	Weak transcription	Pancreas	Pancrea
24	chr11:33644400-33645600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:33644400-33645600	Weak transcription	HSMM	muscle
26	chr11:33644400-33646200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:33644400-33652600	Weak transcription	NH-A	brain
28	chr11:33644400-33654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:33644400-33654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:33644600-33645000	Weak transcription	Fetal Thymus	thymus
31	chr11:33644600-33652400	Weak transcription	Osteobl	bone
32	chr11:33644600-33657600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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