Variant report

Variant	rs61395826
Chromosome Location	chr3:53231295-53231296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53204795..53206722-chr3:53230021..53232845,2	K562	blood:
2	chr3:53230450..53232412-chr3:53285677..53288510,2	MCF-7	breast:
3	chr3:53230880..53232382-chr3:53234423..53236108,2	MCF-7	breast:
4	chr3:53221130..53223624-chr3:53229267..53231736,2	MCF-7	breast:
5	chr3:53229351..53232128-chr3:53235602..53237855,2	MCF-7	breast:
6	chr3:53229084..53231520-chr3:53924374..53926041,2	K562	blood:
7	chr3:53161890..53164661-chr3:53229733..53232453,3	MCF-7	breast:
8	chr3:53228679..53231516-chr3:53231872..53234028,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113811	Chromatin interaction
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12487179	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12495066	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358622	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60520044	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61584438	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62254355	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr3:53227800-53231400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:53228600-53232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:53228800-53232400	Weak transcription	Fetal Heart	heart
4	chr3:53229000-53270000	Weak transcription	Right Atrium	heart
5	chr3:53229600-53231400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:53229600-53231400	Enhancers	Placenta	Placenta
7	chr3:53230000-53232400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:53230000-53232800	Weak transcription	Right Ventricle	heart
9	chr3:53230000-53233000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:53230000-53233200	Weak transcription	Fetal Brain Female	brain
11	chr3:53230200-53231400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:53230200-53234400	Weak transcription	Pancreas	Pancrea
13	chr3:53230200-53241400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:53230400-53234000	Weak transcription	Brain Germinal Matrix	brain
15	chr3:53231000-53232400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:53231000-53233000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:53231000-53236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:53231200-53231400	Enhancers	HepG2	liver
19	chr3:53231200-53232000	Enhancers	GM12878-XiMat	blood
20	chr3:53231200-53232200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:53231200-53232400	Weak transcription	K562	blood
22	chr3:53231200-53233600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:53231200-53234000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:53231200-53234200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:53231200-53234400	Weak transcription	A549	lung
26	chr3:53231200-53235800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:53231200-53236000	Weak transcription	Adipose Nuclei	Adipose
28	chr3:53231200-53236400	Weak transcription	Fetal Intestine Small	intestine
29	chr3:53231200-53239400	Weak transcription	Spleen	Spleen
30	chr3:53231200-53242000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:53231200-53256800	Weak transcription	HMEC	breast

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