Variant report

Variant	rs74056347
Chromosome Location	chr14:65092407-65092408
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	chr14:64970364..64972673-chr14:65091220..65094066,2	MCF-7	breast:
2	chr14:65070348..65072828-chr14:65088281..65092413,3	MCF-7	breast:
3	chr14:65086302..65088091-chr14:65089960..65092763,2	MCF-7	breast:
4	chr14:65005308..65008716-chr14:65090301..65092623,4	MCF-7	breast:
5	chr14:65005659..65007970-chr14:65092237..65094144,2	MCF-7	breast:
6	chr14:64970372..64973152-chr14:65090734..65094178,4	MCF-7	breast:
7	chr14:65082704..65085685-chr14:65090924..65093500,2	K562	blood:
8	chr14:65091021..65092580-chr14:65124236..65126291,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126804	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs45467597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45544744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55919712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57473635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58016138	1.00[AMR][1000 genomes]
rs58434443	1.00[AFR][1000 genomes]
rs60458560	1.00[AMR][1000 genomes]
rs60591932	1.00[AMR][1000 genomes]
rs60835654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61375379	1.00[AMR][1000 genomes]
rs74056313	1.00[AFR][1000 genomes]
rs74056318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056356	1.00[AMR][1000 genomes]
rs74056357	1.00[AMR][1000 genomes]
rs74056360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058121	1.00[AFR][1000 genomes]
rs74058143	1.00[AFR][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65079600-65093800	Weak transcription	Right Atrium	heart
2	chr14:65090600-65095200	Weak transcription	Osteobl	bone
3	chr14:65090800-65095200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:65091000-65095200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:65091800-65092600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65091800-65092600	Enhancers	Fetal Lung	lung
7	chr14:65091800-65092600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:65091800-65092800	Enhancers	Duodenum Mucosa	Duodenum
9	chr14:65091800-65092800	Enhancers	Fetal Intestine Large	intestine
10	chr14:65091800-65093000	Enhancers	Fetal Intestine Small	intestine
11	chr14:65091800-65093000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr14:65091800-65093200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:65091800-65093600	Enhancers	Stomach Mucosa	stomach
14	chr14:65092000-65092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:65092000-65092600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:65092000-65092600	Enhancers	Fetal Heart	heart
17	chr14:65092000-65092600	Weak transcription	Fetal Stomach	stomach
18	chr14:65092000-65092600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr14:65092000-65092800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:65092000-65092800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:65092000-65092800	Enhancers	Placenta	Placenta
22	chr14:65092000-65092800	Enhancers	Gastric	stomach
23	chr14:65092000-65092800	Enhancers	A549	lung
24	chr14:65092000-65093000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:65092000-65093000	Enhancers	Esophagus	oesophagus
26	chr14:65092000-65093000	Enhancers	NHEK	skin
27	chr14:65092200-65092600	Enhancers	Ovary	ovary
28	chr14:65092200-65092600	Enhancers	Spleen	Spleen
29	chr14:65092200-65092800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:65092200-65092800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:65092200-65092800	Enhancers	Pancreas	Pancrea
32	chr14:65092200-65092800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:65092200-65092800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr14:65092400-65092600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:65092400-65092600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:65092400-65092600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:65092400-65092600	Enhancers	Fetal Muscle Leg	muscle
38	chr14:65092400-65092600	Enhancers	NHLF	lung
39	chr14:65092400-65092800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr14:65092400-65092800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:65092400-65092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:65092400-65092800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:65092400-65092800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr14:65092400-65092800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr14:65092400-65092800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr14:65092400-65092800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr14:65092400-65092800	Flanking Active TSS	HepG2	liver
48	chr14:65092400-65095200	Weak transcription	Hela-S3	cervix
49	chr14:65092400-65095400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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