Variant report

Variant	rs12291594
Chromosome Location	chr11:66694883-66694884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66677241..66680010-chr11:66694798..66696500,2	MCF-7	breast:
2	chr11:66687308..66690521-chr11:66692688..66697038,8	K562	blood:
3	chr11:66687308..66690460-chr11:66693802..66697038,4	K562	blood:
4	chr11:66691864..66696349-chr11:66699790..66704237,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266423	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4930395	1.00[ASW][hapmap]

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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66674600-66696400	Weak transcription	NHEK	skin
2	chr11:66675000-66696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:66675600-66699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:66676800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:66683200-66698200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:66685400-66702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:66687400-66696400	Weak transcription	HSMMtube	muscle
8	chr11:66687800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:66687800-66701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:66689000-66696200	Weak transcription	Osteobl	bone
11	chr11:66689200-66696400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:66689400-66701200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:66689600-66700400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:66689600-66707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66689800-66700000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:66690600-66696400	Weak transcription	K562	blood
18	chr11:66692200-66699600	Weak transcription	HepG2	liver
19	chr11:66694000-66697200	Weak transcription	A549	lung
20	chr11:66694400-66696200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:66694400-66696200	Weak transcription	Hela-S3	cervix
22	chr11:66694400-66718000	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:66694600-66698400	Weak transcription	Liver	Liver

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