Variant report

Variant	rs74069147
Chromosome Location	chr12:21920015-21920016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21911072..21915136-chr12:21917661..21920555,3	K562	blood:
2	chr12:21911072..21913941-chr12:21918115..21920555,2	K562	blood:
3	chr12:21917920..21922053-chr12:21922371..21924973,4	K562	blood:
4	chr12:21917979..21920775-chr12:21921590..21923409,2	K562	blood:
5	chr12:21919270..21922091-chr12:21928246..21930485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121361	Chromatin interaction
ENSG00000255644	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830174	1.00[AMR][1000 genomes]
rs11835091	1.00[AMR][1000 genomes]
rs16924275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924290	1.00[AMR][1000 genomes]
rs16924297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16924331	1.00[AMR][1000 genomes]
rs2035870	1.00[AMR][1000 genomes]
rs34093632	1.00[AMR][1000 genomes]
rs55797463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57686151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60002697	1.00[AMR][1000 genomes]
rs74069113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069117	1.00[AMR][1000 genomes]
rs74069148	1.00[AMR][1000 genomes]
rs74069149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069165	1.00[AMR][1000 genomes]
rs74069166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069354	1.00[AMR][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:30 , 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	chr12:21919600-21920200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:21919600-21921000	Weak transcription	Left Ventricle	heart
21	chr12:21919600-21922200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:21919600-21922200	Weak transcription	Fetal Lung	lung
23	chr12:21919600-21923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:21919600-21924200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:21919600-21926000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:21919600-21926000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:21919600-21926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:21919600-21926200	Weak transcription	Pancreas	Pancrea
29	chr12:21919800-21920200	Weak transcription	Fetal Stomach	stomach
30	chr12:21919800-21926200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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