Variant report

Variant	rs72554071
Chromosome Location	chr12:21918667-21918668
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:

Variant related genes	Relation type
ENSG00000255644	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16924224	1.00[EUR][1000 genomes]
rs2081819	1.00[EUR][1000 genomes]
rs55713096	1.00[EUR][1000 genomes]
rs56055068	1.00[EUR][1000 genomes]
rs58998049	1.00[EUR][1000 genomes]
rs59046730	1.00[EUR][1000 genomes]
rs59522091	1.00[EUR][1000 genomes]
rs60365478	1.00[EUR][1000 genomes]
rs60462646	1.00[EUR][1000 genomes]
rs74066743	1.00[EUR][1000 genomes]
rs74066745	1.00[EUR][1000 genomes]
rs74067603	1.00[EUR][1000 genomes]
rs74067604	1.00[EUR][1000 genomes]
rs74067606	1.00[EUR][1000 genomes]
rs74067608	1.00[EUR][1000 genomes]
rs74067610	1.00[EUR][1000 genomes]
rs74067611	1.00[EUR][1000 genomes]
rs74069365	1.00[EUR][1000 genomes]
rs74069366	1.00[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	chr12:21915000-21918800	Enhancers	Fetal Intestine Large	intestine
4	chr12:21915200-21918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:21915400-21918800	Enhancers	Fetal Intestine Small	intestine
6	chr12:21915600-21919000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:21915600-21923600	Weak transcription	Fetal Heart	heart
8	chr12:21916600-21918800	Weak transcription	Aorta	Aorta
9	chr12:21916600-21919200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:21916600-21919400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:21916600-21922000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr12:21916800-21918800	Weak transcription	Lung	lung
13	chr12:21916800-21918800	Weak transcription	Right Ventricle	heart
14	chr12:21916800-21926200	Weak transcription	Gastric	stomach
15	chr12:21916800-21926400	Weak transcription	Spleen	Spleen
16	chr12:21917000-21919000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:21917200-21918800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:21917200-21918800	Weak transcription	Pancreas	Pancrea
19	chr12:21917400-21918800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:21917400-21923600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:21917600-21923400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:21918000-21919000	Strong transcription	Left Ventricle	heart
23	chr12:21918000-21919200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:21918000-21919600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:21918200-21918800	Genic enhancers	Liver	Liver
26	chr12:21918200-21919600	Strong transcription	Colon Smooth Muscle	Colon
27	chr12:21918200-21919600	Strong transcription	Fetal Lung	lung
28	chr12:21918400-21919600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:21918400-21919600	Strong transcription	Adipose Nuclei	Adipose
30	chr12:21918600-21919400	Strong transcription	Ovary	ovary
31	chr12:21918600-21919800	Strong transcription	Fetal Stomach	stomach

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