Variant report

Variant	rs28536084
Chromosome Location	chr14:45479645-45479646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45478064..45480490-chr14:45481016..45483752,3	K562	blood:

Variant related genes	Relation type
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10129456	1.00[AMR][1000 genomes]
rs10130162	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	1.00[AMR][1000 genomes]
rs10132637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.95[AFR][1000 genomes]
rs10139121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	1.00[AMR][1000 genomes]
rs10144179	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10145279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146650	0.81[AFR][1000 genomes]
rs10146732	0.85[AFR][1000 genomes]
rs10146930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.95[AFR][1000 genomes]
rs10150272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.82[AFR][1000 genomes]
rs17092470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.81[AFR][1000 genomes]
rs28469277	0.95[AFR][1000 genomes]
rs28513185	0.82[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003388	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022599	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	1.00[AMR][1000 genomes]
rs961194	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45436200-45486600	Weak transcription	Gastric	stomach
2	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
6	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:45450000-45501800	Weak transcription	Lung	lung
8	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
9	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:45458400-45481600	Weak transcription	Adipose Nuclei	Adipose
15	chr14:45458800-45486600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
17	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:45460800-45495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
20	chr14:45461800-45501400	Weak transcription	NHEK	skin
21	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:45463800-45488200	Weak transcription	Fetal Brain Male	brain
24	chr14:45464400-45482200	Weak transcription	HSMM	muscle
25	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
26	chr14:45464600-45481400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
29	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart
30	chr14:45465800-45487600	Weak transcription	Placenta	Placenta
31	chr14:45465800-45490200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:45465800-45552600	Weak transcription	HMEC	breast
34	chr14:45466200-45508600	Weak transcription	HepG2	liver
35	chr14:45466400-45485400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:45466400-45487400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:45466400-45487600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:45466400-45488000	Weak transcription	Brain Angular Gyrus	brain
39	chr14:45466400-45503000	Weak transcription	Esophagus	oesophagus
40	chr14:45466400-45508000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:45466600-45485400	Weak transcription	Thymus	Thymus
42	chr14:45466600-45487400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:45466600-45496000	Weak transcription	Pancreas	Pancrea
44	chr14:45466600-45501000	Weak transcription	Aorta	Aorta
45	chr14:45467000-45486200	Weak transcription	Osteobl	bone
46	chr14:45467600-45495800	Weak transcription	Brain Substantia Nigra	brain
47	chr14:45468000-45487400	Weak transcription	Brain Germinal Matrix	brain
48	chr14:45468400-45487800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:45468400-45492000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:45468600-45482000	Weak transcription	Brain Anterior Caudate	brain

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