Variant report

Variant	rs4983419
Chromosome Location	chr14:105946842-105946843
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105766285..105767822-chr14:105945911..105948679,2	MCF-7	breast:
2	chr14:105879192..105880978-chr14:105946583..105949410,2	MCF-7	breast:
3	chr14:105877337..105879104-chr14:105945507..105947166,2	MCF-7	breast:
4	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
5	chr14:105925538..105928214-chr14:105946685..105948509,2	K562	blood:
6	chr14:105713738..105716162-chr14:105946166..105948343,2	MCF-7	breast:
7	chr14:105946647..105948865-chr14:105955547..105957370,23	MCF-7	breast:
8	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
9	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
10	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
11	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
12	chr14:105946608..105948237-chr14:106000945..106003342,2	MCF-7	breast:
13	chr14:105839425..105843389-chr14:105946239..105949044,4	MCF-7	breast:
14	chr14:105946210..105948124-chr17:59469591..59472148,2	MCF-7	breast:
15	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
16	chr14:105925538..105928214-chr14:105944900..105948509,4	K562	blood:
17	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
18	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:
19	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184986	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000242085	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135326	0.88[MKK][hapmap];0.83[YRI][hapmap]
rs10138891	0.93[AMR][1000 genomes]
rs11160845	0.93[AMR][1000 genomes]
rs12323571	0.93[AMR][1000 genomes]
rs13707	0.86[AMR][1000 genomes]
rs4983412	0.85[AMR][1000 genomes]
rs4983414	0.86[AMR][1000 genomes]
rs4983418	0.86[AMR][1000 genomes]
rs4983422	0.93[AMR][1000 genomes]
rs4983423	0.93[AMR][1000 genomes]
rs7140395	0.93[AMR][1000 genomes]
rs7158977	0.93[AMR][1000 genomes]
rs73362069	0.93[AMR][1000 genomes]
rs7492892	0.85[AMR][1000 genomes]
rs7493450	0.85[AMR][1000 genomes]
rs8012089	0.93[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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105942000-105947000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr14:105942000-105947000	Weak transcription	K562	blood
3	chr14:105943200-105947400	Weak transcription	Ovary	ovary
4	chr14:105943200-105949400	Enhancers	Fetal Brain Male	brain
5	chr14:105943400-105947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:105943400-105947200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:105943800-105947000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:105943800-105947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105943800-105947400	Weak transcription	Osteobl	bone
10	chr14:105944000-105947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:105944000-105947000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:105944000-105947000	Weak transcription	Liver	Liver
13	chr14:105944000-105947000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:105944000-105947000	Weak transcription	Fetal Kidney	kidney
15	chr14:105944000-105947000	Weak transcription	HepG2	liver
16	chr14:105944000-105947200	Weak transcription	Brain Angular Gyrus	brain
17	chr14:105944000-105947400	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:105944000-105947400	Weak transcription	Aorta	Aorta
19	chr14:105944000-105947400	Enhancers	Fetal Heart	heart
20	chr14:105944000-105947400	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr14:105944000-105947400	Weak transcription	Gastric	stomach
22	chr14:105944000-105947400	Weak transcription	Psoas Muscle	Psoas
23	chr14:105944200-105947000	Weak transcription	HUVEC	blood vessel
24	chr14:105944200-105947400	Weak transcription	Right Atrium	heart
25	chr14:105944800-105947000	Weak transcription	Fetal Lung	lung
26	chr14:105945000-105947000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:105945000-105947000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:105945200-105947400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:105945600-105947000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:105945600-105947000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:105945600-105947000	Genic enhancers	Fetal Muscle Leg	muscle
32	chr14:105945600-105947400	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:105945600-105947400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:105945600-105947400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:105945600-105947600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:105945800-105947000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr14:105945800-105947200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:105945800-105947200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr14:105945800-105947400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr14:105945800-105947400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:105945800-105947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:105945800-105947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:105945800-105947400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105945800-105947400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:105945800-105947400	Enhancers	Brain Anterior Caudate	brain
46	chr14:105945800-105947400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:105945800-105947400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr14:105946000-105947200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
49	chr14:105946000-105947400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:105946000-105947400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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