Variant report

Variant	rs73272218
Chromosome Location	chr14:68772326-68772327
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68770678..68778907-chr14:69255944..69264299,32	MCF-7	breast:
2	chr14:68771546..68782546-chr14:69251132..69265678,35	MCF-7	breast:
3	chr14:68758837..68760910-chr14:68771179..68773357,2	MCF-7	breast:
4	chr14:68772101..68775016-chr14:68999200..69001646,2	MCF-7	breast:
5	chr14:68747190..68749471-chr14:68772017..68773815,2	MCF-7	breast:
6	chr14:68725759..68728590-chr14:68771718..68773261,2	MCF-7	breast:
7	chr14:68772006..68774529-chr14:68858982..68860714,2	MCF-7	breast:
8	chr14:68759580..68761142-chr14:68771842..68774363,2	MCF-7	breast:
9	chr14:68750460..68752816-chr14:68771764..68775094,3	MCF-7	breast:
10	chr14:68772189..68774802-chr14:69035242..69038239,3	MCF-7	breast:
11	chr14:68764415..68769564-chr14:68770855..68774967,6	MCF-7	breast:
12	chr14:68718999..68725813-chr14:68770906..68776082,15	MCF-7	breast:
13	chr14:68772020..68773538-chr14:68978440..68980625,2	MCF-7	breast:
14	chr14:68772159..68774969-chr14:69141691..69143278,2	MCF-7	breast:
15	chr14:68409488..68412789-chr14:68771965..68776404,3	MCF-7	breast:
16	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
17	chr14:68771399..68773960-chr14:68910018..68913627,3	MCF-7	breast:
18	chr14:68772153..68774683-chr14:68933663..68935450,3	MCF-7	breast:
19	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
20	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
21	chr14:68605825..68608678-chr14:68771583..68773389,3	MCF-7	breast:
22	chr14:68406746..68408855-chr14:68770868..68773760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12432997	1.00[AFR][1000 genomes]
rs34334823	1.00[AFR][1000 genomes]
rs34518413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58616347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58773728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60900258	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61501912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272225	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73272271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272283	1.00[AFR][1000 genomes]
rs73290285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061613	1.00[AFR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68760600-68773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:68762000-68773400	Weak transcription	Small Intestine	intestine
4	chr14:68763400-68772400	Weak transcription	Pancreas	Pancrea
5	chr14:68765000-68774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68767600-68776400	Weak transcription	Left Ventricle	heart
7	chr14:68768200-68772600	Weak transcription	Ovary	ovary
8	chr14:68769000-68773400	Weak transcription	Aorta	Aorta
9	chr14:68769000-68776400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68769200-68773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:68769200-68774000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:68769200-68774200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:68769400-68772600	Weak transcription	Fetal Thymus	thymus
15	chr14:68770000-68773400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:68770200-68772400	Weak transcription	Fetal Intestine Large	intestine
17	chr14:68771400-68773400	Weak transcription	Fetal Stomach	stomach
18	chr14:68771400-68773400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:68771400-68774200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:68771600-68772600	Weak transcription	Fetal Lung	lung
21	chr14:68771600-68773800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:68771800-68773000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:68771800-68773200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:68771800-68773800	Enhancers	Primary B cells from cord blood	blood
25	chr14:68771800-68773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:68772000-68773000	Flanking Active TSS	GM12878-XiMat	blood
27	chr14:68772000-68777800	Enhancers	Fetal Kidney	kidney
28	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:68772200-68772600	Enhancers	Placenta	Placenta

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