Variant report

Variant	rs10483814
Chromosome Location	chr14:69055799-69055800
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: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	chr14:69021201..69023551-chr14:69053894..69056000,2	MCF-7	breast:
2	chr14:68722408..68724336-chr14:69054457..69055958,2	K562	blood:
3	chr14:69053718..69056599-chr14:69063479..69065769,2	K562	blood:
4	chr14:69036750..69039509-chr14:69055628..69057571,2	MCF-7	breast:
5	chr14:68930105..68933005-chr14:69055424..69057874,3	MCF-7	breast:
6	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
7	chr14:69054452..69058686-chr14:69249853..69254831,4	MCF-7	breast:
8	chr14:69053766..69056397-chr14:69258298..69260703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10130177	1.00[CHB][hapmap]
rs10133460	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10134240	1.00[CHB][hapmap]
rs10137367	1.00[CHB][hapmap]
rs10147979	1.00[CHB][hapmap]
rs10148391	1.00[CHB][hapmap]
rs10483810	1.00[CHB][hapmap]
rs10483811	1.00[CHB][hapmap]
rs11849344	1.00[CHB][hapmap]
rs17105810	1.00[CHB][hapmap]
rs17105812	1.00[CHB][hapmap]
rs17105828	1.00[CHB][hapmap]
rs17105829	1.00[CHB][hapmap]
rs17829180	1.00[CHB][hapmap]
rs17829192	1.00[CHB][hapmap];0.83[GIH][hapmap];0.86[ASN][1000 genomes]
rs2842339	1.00[CHB][hapmap]
rs28488019	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56382633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72729538	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8017678	1.00[CHB][hapmap]
rs9323515	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69047400-69060200	Weak transcription	Spleen	Spleen
2	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69050200-69058800	Enhancers	Fetal Muscle Trunk	muscle
4	chr14:69050200-69058800	Enhancers	Placenta	Placenta
5	chr14:69051000-69055800	Enhancers	Fetal Thymus	thymus
6	chr14:69051000-69057000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69051000-69057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:69051200-69058200	Enhancers	NHDF-Ad	bronchial
9	chr14:69051200-69061800	Enhancers	Fetal Stomach	stomach
10	chr14:69051400-69057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:69051400-69057400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:69051400-69058000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:69051600-69057200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:69051800-69057600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:69052000-69057600	Enhancers	Fetal Lung	lung
16	chr14:69052000-69057800	Enhancers	Colon Smooth Muscle	Colon
17	chr14:69052200-69058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:69052600-69057400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:69052600-69057800	Enhancers	Adipose Nuclei	Adipose
20	chr14:69052600-69060400	Weak transcription	Osteobl	bone
21	chr14:69052800-69057000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:69052800-69059600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:69053000-69056800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69053200-69056600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:69053400-69056800	Weak transcription	Pancreas	Pancrea
27	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain
28	chr14:69053600-69056200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:69053600-69056800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:69053600-69057800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:69053800-69056400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:69053800-69056800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:69053800-69056800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:69053800-69057000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr14:69053800-69057200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:69053800-69057200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:69053800-69057200	Enhancers	Fetal Heart	heart
38	chr14:69053800-69057600	Enhancers	Left Ventricle	heart
39	chr14:69053800-69057600	Enhancers	Right Atrium	heart
40	chr14:69053800-69057600	Enhancers	HSMMtube	muscle
41	chr14:69054000-69056000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr14:69054000-69057400	Enhancers	Fetal Kidney	kidney
43	chr14:69054200-69056000	Weak transcription	NH-A	brain
44	chr14:69054200-69063400	Weak transcription	Small Intestine	intestine
45	chr14:69054400-69056200	Weak transcription	Gastric	stomach
46	chr14:69054400-69060400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:69054600-69055800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:69054600-69055800	Weak transcription	Stomach Mucosa	stomach
49	chr14:69054600-69056000	Enhancers	Stomach Smooth Muscle	stomach
50	chr14:69054600-69056000	Weak transcription	NHLF	lung

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