Variant report

Variant	rs11046182
Chromosome Location	chr12:21921083-21921084
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	chr12:21917920..21922053-chr12:21922371..21924973,4	K562	blood:
2	chr12:21919270..21922091-chr12:21928246..21930485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121361	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10841893	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10841894	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11046186	0.82[ASN][1000 genomes]
rs11046188	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11046191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12821277	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1283791	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7309274	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829060	0.90[EUR][1000 genomes]
rs829061	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs829064	0.89[EUR][1000 genomes]
rs9668454	0.81[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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21914600-21925800	Weak transcription	Fetal Kidney	kidney
2	chr12:21914800-21923400	Weak transcription	NHLF	lung
3	chr12:21915600-21923600	Weak transcription	Fetal Heart	heart
4	chr12:21916600-21922000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr12:21916800-21926200	Weak transcription	Gastric	stomach
6	chr12:21916800-21926400	Weak transcription	Spleen	Spleen
7	chr12:21917400-21923600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:21917600-21923400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:21918800-21921200	Strong transcription	Liver	Liver
10	chr12:21919000-21921200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21919200-21923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:21919200-21926200	Weak transcription	Lung	lung
13	chr12:21919400-21923800	Weak transcription	Right Ventricle	heart
14	chr12:21919400-21924800	Weak transcription	Aorta	Aorta
15	chr12:21919400-21925800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:21919400-21926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:21919400-21926200	Weak transcription	Fetal Intestine Small	intestine
18	chr12:21919400-21926200	Weak transcription	Ovary	ovary
19	chr12:21919600-21922200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:21919600-21922200	Weak transcription	Fetal Lung	lung
21	chr12:21919600-21923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:21919600-21924200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:21919600-21926000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:21919600-21926000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:21919600-21926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:21919600-21926200	Weak transcription	Pancreas	Pancrea
27	chr12:21919800-21926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:21920200-21921400	Strong transcription	Fetal Stomach	stomach
29	chr12:21920200-21923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:21920800-21924600	Enhancers	NHDF-Ad	bronchial
31	chr12:21921000-21921400	Genic enhancers	Left Ventricle	heart

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