Variant report

Variant	rs73346308
Chromosome Location	chr14:45416791-45416792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11846891	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11847071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850713	0.84[EUR][1000 genomes]
rs45590239	1.00[EUR][1000 genomes]
rs59017481	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59073313	0.84[EUR][1000 genomes]
rs73334137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334919	1.00[EUR][1000 genomes]
rs73340630	0.84[EUR][1000 genomes]
rs73340634	0.84[EUR][1000 genomes]
rs73346324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348059	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73348082	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73348279	0.91[AFR][1000 genomes]
rs73349815	0.84[EUR][1000 genomes]
rs73350005	1.00[EUR][1000 genomes]
rs73353671	1.00[EUR][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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45396200-45428400	Weak transcription	HMEC	breast
2	chr14:45397000-45417000	Weak transcription	Stomach Mucosa	stomach
3	chr14:45402000-45430000	Weak transcription	Colonic Mucosa	Colon
4	chr14:45405400-45416800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:45405600-45417200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:45407800-45428600	Weak transcription	K562	blood
7	chr14:45408400-45429000	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:45408600-45418600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:45408600-45430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:45409400-45429600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:45409600-45419600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:45410600-45429200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:45410800-45420400	Weak transcription	Fetal Stomach	stomach
14	chr14:45411200-45417000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:45411600-45417600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:45411800-45421400	Strong transcription	Primary B cells from cord blood	blood
17	chr14:45412800-45416800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:45413000-45416800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:45413000-45417200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:45413000-45417200	Strong transcription	Fetal Thymus	thymus
21	chr14:45413200-45428400	Weak transcription	Fetal Brain Female	brain
22	chr14:45413600-45417600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:45413800-45416800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr14:45413800-45416800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:45413800-45416800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:45413800-45417400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:45413800-45429200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:45414000-45417200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:45414800-45427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:45414800-45427600	Weak transcription	HSMMtube	muscle
31	chr14:45414800-45429200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:45415000-45419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:45415000-45419000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:45415000-45419600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:45415000-45420200	Weak transcription	Small Intestine	intestine
36	chr14:45415000-45424600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:45415000-45426000	Weak transcription	Pancreas	Pancrea
38	chr14:45415000-45426600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:45415000-45426800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:45415000-45427000	Weak transcription	Fetal Brain Male	brain
41	chr14:45415000-45427400	Weak transcription	A549	lung
42	chr14:45415000-45427600	Weak transcription	Adipose Nuclei	Adipose
43	chr14:45415000-45428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:45415000-45428600	Weak transcription	Brain Anterior Caudate	brain
45	chr14:45415000-45429400	Weak transcription	Fetal Kidney	kidney
46	chr14:45415000-45429400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:45415000-45429600	Weak transcription	Right Ventricle	heart
48	chr14:45415000-45430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:45415200-45417400	Weak transcription	NHDF-Ad	bronchial
50	chr14:45415200-45419200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links