Variant report

Variant	rs295319
Chromosome Location	chr3:141363408-141363409
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	chr3:141361497..141363664-chr3:141364151..141366468,2	MCF-7	breast:
2	chr3:141295089..141297819-chr3:141362383..141363982,2	MCF-7	breast:
3	chr3:141362313..141364967-chr3:141594045..141596596,2	K562	blood:
4	chr3:141362984..141365569-chr3:141367265..141370000,2	MCF-7	breast:
5	chr3:141279958..141280759-chr3:141363300..141364055,4	K562	blood:
6	chr3:141295052..141295995-chr3:141363331..141364146,2	MCF-7	breast:
7	chr3:141361664..141363556-chr3:141455269..141458105,3	K562	blood:
8	chr3:141294935..141295765-chr3:141363408..141364356,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction
ENSG00000155903	Chromatin interaction
ENSG00000114125	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1568173	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640009	0.84[EUR][1000 genomes]
rs2640011	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640013	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677428	1.00[ASN][1000 genomes]
rs295318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440026	0.82[ASN][1000 genomes]
rs7626791	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141361000-141363800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:141361000-141364000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:141361400-141363800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:141361400-141365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:141361600-141363600	Weak transcription	HepG2	liver
6	chr3:141361600-141364200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:141362000-141364000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:141362200-141364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:141362600-141363800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:141362600-141363800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:141362600-141366400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:141362800-141364000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:141362800-141364200	Enhancers	Fetal Intestine Small	intestine
14	chr3:141362800-141364200	Enhancers	Placenta	Placenta
15	chr3:141363000-141365600	Weak transcription	HSMMtube	muscle
16	chr3:141363200-141363600	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:141363200-141363600	Weak transcription	Ovary	ovary
18	chr3:141363200-141364000	Enhancers	Esophagus	oesophagus
19	chr3:141363200-141371400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:141363400-141363800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:141363400-141364000	Enhancers	Fetal Intestine Large	intestine
22	chr3:141363400-141364200	Enhancers	Adipose Nuclei	Adipose
23	chr3:141363400-141364200	Enhancers	Lung	lung

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