Variant report

Variant	rs58616347
Chromosome Location	chr14:68776077-68776078
allele	A/G
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	chr14:68774156..68777438-chr14:68786108..68788577,3	MCF-7	breast:
4	chr14:68407343..68410074-chr14:68773850..68776325,3	MCF-7	breast:
5	chr14:68773574..68776467-chr14:68830101..68831913,2	MCF-7	breast:
6	chr14:68774371..68776211-chr14:68881268..68882800,2	MCF-7	breast:
7	chr14:68773930..68776459-chr14:69021069..69023168,2	MCF-7	breast:
8	chr14:68773440..68776404-chr14:68870771..68875059,3	MCF-7	breast:
9	chr14:68718999..68725813-chr14:68770906..68776082,15	MCF-7	breast:
10	chr14:68774941..68776993-chr14:68858401..68860071,2	MCF-7	breast:
11	chr14:68775479..68777224-chr14:69038956..69041155,2	MCF-7	breast:
12	chr14:68612130..68613660-chr14:68774074..68776963,2	MCF-7	breast:
13	chr14:68409488..68412789-chr14:68771965..68776404,3	MCF-7	breast:
14	chr14:68773192..68776654-chr14:68782596..68784828,4	MCF-7	breast:
15	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
16	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
17	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
18	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
19	chr14:68775195..68777940-chr14:69277333..69279325,2	MCF-7	breast:
20	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:
21	chr14:68775050..68777034-chr14:68923914..68926374,3	MCF-7	breast:
22	chr14:68775995..68776757-chr14:68925476..68926025,2	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	0.87[AFR][1000 genomes]
rs34334823	0.87[AFR][1000 genomes]
rs34518413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58773728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60900258	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61501912	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272221	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272225	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73272271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272283	0.87[AFR][1000 genomes]
rs73290285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061613	0.87[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68767600-68776400	Weak transcription	Left Ventricle	heart
3	chr14:68769000-68776400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:68772000-68777800	Enhancers	Fetal Kidney	kidney
6	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:68772600-68777000	Enhancers	Fetal Lung	lung
8	chr14:68772600-68788000	Weak transcription	Lung	lung
9	chr14:68773000-68776200	Enhancers	Stomach Mucosa	stomach
10	chr14:68773000-68777000	Enhancers	Colon Smooth Muscle	Colon
11	chr14:68773000-68777000	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:68773400-68776200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:68773400-68776600	Enhancers	Fetal Muscle Leg	muscle
14	chr14:68773400-68776600	Enhancers	Fetal Stomach	stomach
15	chr14:68773800-68776800	Weak transcription	Small Intestine	intestine
16	chr14:68773800-68777000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:68773800-68777000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:68774000-68776200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:68774000-68776600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:68774000-68776800	Enhancers	Osteobl	bone
21	chr14:68774000-68777000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:68774200-68776400	Weak transcription	Aorta	Aorta
23	chr14:68774200-68777800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:68774400-68776200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:68774400-68785200	Weak transcription	Psoas Muscle	Psoas
26	chr14:68774600-68776200	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:68774800-68778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:68774800-68778400	Enhancers	Primary B cells from cord blood	blood
29	chr14:68774800-68779000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:68774800-68779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68774800-68780200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:68775000-68776200	Enhancers	NHLF	lung
33	chr14:68775000-68776400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:68775000-68779000	Weak transcription	HepG2	liver
35	chr14:68775000-68779400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:68775400-68777000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:68775400-68777000	Enhancers	Adipose Nuclei	Adipose
38	chr14:68775600-68776200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:68775600-68776200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:68775600-68776200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:68775600-68776200	Enhancers	Brain Cingulate Gyrus	brain
42	chr14:68775600-68776200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr14:68775600-68777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68775600-68777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:68775600-68777400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:68775600-68779000	Enhancers	Primary T cells from cord blood	blood
47	chr14:68775600-68780000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:68775800-68776200	Enhancers	Brain Angular Gyrus	brain
49	chr14:68775800-68777000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr14:68775800-68779000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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