Variant report

Variant	rs12273276
Chromosome Location	chr11:46321066-46321067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
2	chr11:46257101..46259432-chr11:46320303..46322157,2	MCF-7	breast:
3	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
4	chr11:46276687..46279221-chr11:46320617..46322346,2	K562	blood:
5	chr11:46319743..46322548-chr11:46366934..46370497,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10838595	0.95[EUR][1000 genomes]
rs11038851	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12286778	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124003	0.97[EUR][1000 genomes]
rs72910053	0.90[ASN][1000 genomes]
rs7929630	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46317000-46321800	Enhancers	Stomach Mucosa	stomach
2	chr11:46318200-46321200	Weak transcription	Gastric	stomach
3	chr11:46318200-46321200	Weak transcription	Spleen	Spleen
4	chr11:46318200-46330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:46318800-46321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:46318800-46321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:46319000-46326800	Weak transcription	Esophagus	oesophagus
8	chr11:46319000-46329200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:46319200-46321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:46319200-46321200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:46319200-46321200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:46319200-46323800	Weak transcription	Fetal Lung	lung
13	chr11:46319200-46323800	Weak transcription	HSMMtube	muscle
14	chr11:46319200-46324000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:46319200-46326000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:46319200-46326600	Weak transcription	Placenta	Placenta
17	chr11:46319200-46328200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:46319200-46329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:46319200-46330000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:46319200-46330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:46319200-46330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
23	chr11:46319200-46342000	Weak transcription	Ovary	ovary
24	chr11:46319400-46321200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:46319400-46321200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:46319400-46322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:46319400-46330200	Weak transcription	Colonic Mucosa	Colon
28	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:46319600-46322000	Genic enhancers	HSMM	muscle
30	chr11:46319600-46328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:46319600-46328800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:46320200-46322000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:46320200-46322200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:46320400-46321200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:46320400-46321200	Enhancers	K562	blood
36	chr11:46320400-46321400	Enhancers	NHEK	skin
37	chr11:46320400-46321600	Flanking Active TSS	A549	lung
38	chr11:46320400-46321600	Enhancers	HMEC	breast
39	chr11:46320400-46329200	Strong transcription	Fetal Stomach	stomach
40	chr11:46320600-46321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:46320600-46322200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:46320800-46321200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:46320800-46321200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:46320800-46321200	Enhancers	Pancreas	Pancrea
45	chr11:46320800-46321200	Flanking Active TSS	NH-A	brain
46	chr11:46320800-46321200	Flanking Active TSS	NHLF	lung
47	chr11:46320800-46321400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:46320800-46321400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:46320800-46321400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:46320800-46321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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