Variant report

Variant	rs56803309
Chromosome Location	chr14:45380168-45380169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45372525..45374886-chr14:45378608..45380289,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11846502	0.81[AFR][1000 genomes]
rs17115692	0.81[AFR][1000 genomes]
rs55875939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57261684	0.81[AFR][1000 genomes]
rs57489965	0.82[AFR][1000 genomes]
rs74046527	0.98[AFR][1000 genomes]
rs74046529	0.98[AFR][1000 genomes]
rs74046533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74046535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:45367400-45381200	Weak transcription	Lung	lung
3	chr14:45367600-45381400	Weak transcription	HSMM	muscle
4	chr14:45367800-45380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:45368200-45380200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:45368200-45381000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:45368200-45381000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:45368400-45380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:45368400-45380800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:45368400-45381000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:45368600-45380600	Weak transcription	Fetal Lung	lung
13	chr14:45368600-45380600	Weak transcription	Fetal Stomach	stomach
14	chr14:45368800-45381000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:45371600-45380600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:45371600-45381200	Weak transcription	Pancreas	Pancrea
17	chr14:45371800-45380600	Weak transcription	Ovary	ovary
18	chr14:45371800-45381000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:45374400-45380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:45374800-45380600	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:45374800-45380800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:45374800-45381000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:45375000-45380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:45375000-45381000	Weak transcription	NH-A	brain
25	chr14:45375000-45381200	Weak transcription	NHDF-Ad	bronchial
26	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:45376200-45381000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:45377600-45380400	Weak transcription	Esophagus	oesophagus
29	chr14:45379800-45380600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:45380000-45380600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:45380000-45380600	Enhancers	Fetal Kidney	kidney
32	chr14:45380000-45380600	Enhancers	HSMMtube	muscle
33	chr14:45380000-45380800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:45380000-45380800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:45380000-45380800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:45380000-45381000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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