Variant report

Variant	rs7947544
Chromosome Location	chr11:33653837-33653838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33651094..33655040-chr11:33655885..33660180,5	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12574877	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16924503	1.00[CEU][hapmap]
rs35067732	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55643801	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55809805	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61888293	1.00[ASN][1000 genomes]
rs7116148	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120970	0.90[AMR][1000 genomes]
rs7121042	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72918743	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72918753	0.84[EUR][1000 genomes]
rs7947213	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7947399	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7949605	0.81[EUR][1000 genomes]
rs9737368	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33640600-33666400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:33640800-33673600	Weak transcription	Fetal Brain Male	brain
3	chr11:33642600-33673600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:33642800-33657400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:33643000-33673600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:33644400-33654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:33644400-33654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:33644600-33657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:33652200-33654800	Enhancers	A549	lung
10	chr11:33652200-33654800	Enhancers	NHEK	skin
11	chr11:33652200-33655200	Enhancers	HMEC	breast
12	chr11:33652200-33659600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:33652400-33654200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:33652400-33656200	Strong transcription	Fetal Brain Female	brain
15	chr11:33652400-33659200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:33652800-33654400	Weak transcription	Osteobl	bone
17	chr11:33652800-33654800	Weak transcription	NH-A	brain
18	chr11:33652800-33656400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:33653000-33654400	Weak transcription	Placenta	Placenta
20	chr11:33653000-33655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:33653000-33655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:33653000-33656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:33653000-33656000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:33653000-33656000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:33653200-33654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:33653200-33655800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:33653200-33655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:33653200-33656000	Weak transcription	HSMM	muscle
29	chr11:33653200-33656000	Weak transcription	HSMMtube	muscle
30	chr11:33653200-33658400	Weak transcription	Esophagus	oesophagus
31	chr11:33653400-33654400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:33653400-33654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:33653600-33655000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:33653600-33655800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:33653800-33655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:33653800-33655200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:33653800-33656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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