Variant report

Variant	rs55914160
Chromosome Location	chr3:42796150-42796151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42795565..42797413-chr3:42869940..42872735,2	MCF-7	breast:
2	chr3:42796140..42798050-chr3:42801368..42804341,2	K562	blood:
3	chr3:42772011..42774170-chr3:42795721..42797290,2	K562	blood:
4	chr3:42592301..42594170-chr3:42795995..42797942,2	K562	blood:

Variant related genes	Relation type
ENSG00000173811	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13433851	0.85[AFR][1000 genomes]
rs13433945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73829292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73829293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814373	0.82[AFR][1000 genomes]
rs9831582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9837432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9849297	0.82[AFR][1000 genomes]
rs9851661	0.82[AFR][1000 genomes]
rs9855749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9866372	0.82[AFR][1000 genomes]
rs9877459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9879906	0.82[AFR][1000 genomes]
rs9881713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1846968	chr3:42787469-42832979	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42778000-42811000	Weak transcription	Spleen	Spleen
2	chr3:42781800-42802800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:42788400-42797200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:42788600-42804200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:42788800-42799800	Weak transcription	Left Ventricle	heart
6	chr3:42789800-42807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:42791000-42804000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:42791400-42797200	Weak transcription	Fetal Heart	heart
9	chr3:42791600-42797400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:42791600-42803000	Weak transcription	Colonic Mucosa	Colon
11	chr3:42791800-42797000	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:42791800-42797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:42791800-42797200	Weak transcription	Brain Anterior Caudate	brain
14	chr3:42791800-42797800	Weak transcription	Pancreas	Pancrea
15	chr3:42791800-42804000	Weak transcription	Right Ventricle	heart
16	chr3:42791800-42807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:42792000-42797200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:42792000-42797200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:42792000-42797200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:42792000-42802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:42793600-42797000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:42793600-42797200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:42793600-42797400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:42793600-42802600	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:42793600-42802600	Weak transcription	Brain Substantia Nigra	brain
26	chr3:42793600-42811000	Weak transcription	Lung	lung
27	chr3:42794800-42797200	Weak transcription	Stomach Mucosa	stomach
28	chr3:42795200-42796400	Enhancers	Placenta	Placenta
29	chr3:42795600-42797200	Enhancers	HepG2	liver
30	chr3:42795600-42814000	Weak transcription	Gastric	stomach
31	chr3:42795600-42814400	Weak transcription	Aorta	Aorta
32	chr3:42796000-42796600	Enhancers	Adipose Nuclei	Adipose
33	chr3:42796000-42799000	Enhancers	Fetal Intestine Large	intestine
34	chr3:42796000-42799000	Enhancers	Fetal Intestine Small	intestine

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