Variant report

Variant	rs4983340
Chromosome Location	chr14:105947025-105947026
allele	G/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105946928..105948485-chr14:105955764..105957474,8	MCF-7	breast:
2	chr14:105766285..105767822-chr14:105945911..105948679,2	MCF-7	breast:
3	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
4	chr14:105879192..105880978-chr14:105946583..105949410,2	MCF-7	breast:
5	chr14:105877337..105879104-chr14:105945507..105947166,2	MCF-7	breast:
6	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
7	chr14:105925538..105928214-chr14:105946685..105948509,2	K562	blood:
8	chr14:105713738..105716162-chr14:105946166..105948343,2	MCF-7	breast:
9	chr14:105914257..105915649-chr14:105946890..105947776,7	MCF-7	breast:
10	chr14:105946647..105948865-chr14:105955547..105957370,23	MCF-7	breast:
11	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
12	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
13	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
14	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
15	chr14:105946608..105948237-chr14:106000945..106003342,2	MCF-7	breast:
16	chr14:105839425..105843389-chr14:105946239..105949044,4	MCF-7	breast:
17	chr14:105946210..105948124-chr17:59469591..59472148,2	MCF-7	breast:
18	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
19	chr14:105862539..105866268-chr14:105946890..105950237,5	MCF-7	breast:
20	chr14:105925538..105928214-chr14:105944900..105948509,4	K562	blood:
21	chr14:105946935..105947814-chr14:105994470..105995810,5	MCF-7	breast:
22	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
23	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:
24	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10131380	1.00[AMR][1000 genomes]
rs4983339	0.85[AMR][1000 genomes]
rs6576104	1.00[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105943200-105947400	Weak transcription	Ovary	ovary
2	chr14:105943200-105949400	Enhancers	Fetal Brain Male	brain
3	chr14:105943400-105947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:105943400-105947200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:105943800-105947400	Weak transcription	Osteobl	bone
6	chr14:105944000-105947200	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105944000-105947400	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:105944000-105947400	Weak transcription	Aorta	Aorta
9	chr14:105944000-105947400	Enhancers	Fetal Heart	heart
10	chr14:105944000-105947400	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr14:105944000-105947400	Weak transcription	Gastric	stomach
12	chr14:105944000-105947400	Weak transcription	Psoas Muscle	Psoas
13	chr14:105944200-105947400	Weak transcription	Right Atrium	heart
14	chr14:105945200-105947400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:105945600-105947400	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:105945600-105947400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:105945600-105947400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:105945600-105947600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:105945800-105947200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:105945800-105947200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr14:105945800-105947400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr14:105945800-105947400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:105945800-105947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:105945800-105947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:105945800-105947400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:105945800-105947400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:105945800-105947400	Enhancers	Brain Anterior Caudate	brain
28	chr14:105945800-105947400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:105945800-105947400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr14:105946000-105947200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr14:105946000-105947400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:105946000-105947400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr14:105946000-105947400	Enhancers	Pancreas	Pancrea
34	chr14:105946200-105947200	Enhancers	Brain Hippocampus Middle	brain
35	chr14:105946200-105947400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:105946200-105947400	Enhancers	HSMM	muscle
37	chr14:105946200-105947600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:105946400-105947200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr14:105946400-105947200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:105946400-105947200	Enhancers	Colon Smooth Muscle	Colon
41	chr14:105946400-105947400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:105946400-105947400	Enhancers	Placenta	Placenta
43	chr14:105946400-105947400	Enhancers	Right Ventricle	heart
44	chr14:105946600-105947400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:105946600-105947400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:105946600-105947400	Enhancers	Primary B cells from cord blood	blood
47	chr14:105946600-105947400	Enhancers	Colonic Mucosa	Colon
48	chr14:105946600-105947400	Enhancers	Fetal Intestine Small	intestine
49	chr14:105946600-105947400	Weak transcription	Left Ventricle	heart
50	chr14:105946600-105947400	Weak transcription	Lung	lung

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