Variant report

Variant	rs10135494
Chromosome Location	chr14:45413028-45413029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45411284..45415630-chr14:45602113..45605486,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187790	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10129201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134385	1.00[AMR][1000 genomes]
rs10142928	0.85[AFR][1000 genomes]
rs10146650	1.00[AMR][1000 genomes]
rs10146732	1.00[AMR][1000 genomes]
rs10147547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	0.89[AFR][1000 genomes]
rs10149748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	1.00[AMR][1000 genomes]
rs17115714	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115721	0.80[AFR][1000 genomes]
rs17115814	1.00[AMR][1000 genomes]
rs28513185	1.00[AMR][1000 genomes]
rs28544334	0.86[AFR][1000 genomes]
rs28690299	0.90[AFR][1000 genomes]
rs28802144	0.83[AFR][1000 genomes]
rs28831119	0.83[AFR][1000 genomes]
rs8010366	0.91[AFR][1000 genomes]
rs961194	0.83[AFR][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	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45394200-45413800	Weak transcription	HepG2	liver
2	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
3	chr14:45395400-45414400	Weak transcription	NH-A	brain
4	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:45396200-45428400	Weak transcription	HMEC	breast
6	chr14:45396600-45414200	Weak transcription	Ovary	ovary
7	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
8	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
9	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:45397000-45417000	Weak transcription	Stomach Mucosa	stomach
11	chr14:45397800-45414200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:45398400-45414400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:45401000-45414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:45402000-45430000	Weak transcription	Colonic Mucosa	Colon
15	chr14:45402400-45414400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:45403200-45415400	Strong transcription	Dnd41	blood
17	chr14:45405000-45414200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:45405200-45414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:45405400-45416800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:45405600-45415200	Strong transcription	Fetal Lung	lung
21	chr14:45405600-45417200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:45405800-45416600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:45406600-45414200	Weak transcription	NHEK	skin
24	chr14:45407200-45413800	Weak transcription	NHLF	lung
25	chr14:45407200-45414200	Weak transcription	HSMMtube	muscle
26	chr14:45407400-45413200	Weak transcription	Hela-S3	cervix
27	chr14:45407400-45413600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:45407400-45416600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:45407800-45428600	Weak transcription	K562	blood
30	chr14:45408400-45414200	Weak transcription	Right Ventricle	heart
31	chr14:45408400-45414600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:45408400-45415400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:45408400-45429000	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:45408600-45414200	Weak transcription	Aorta	Aorta
35	chr14:45408600-45414200	Weak transcription	Esophagus	oesophagus
36	chr14:45408600-45414200	Weak transcription	Fetal Kidney	kidney
37	chr14:45408600-45414200	Weak transcription	Gastric	stomach
38	chr14:45408600-45414200	Weak transcription	Lung	lung
39	chr14:45408600-45414200	Weak transcription	Pancreas	Pancrea
40	chr14:45408600-45414200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:45408600-45414800	Weak transcription	Spleen	Spleen
42	chr14:45408600-45416400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:45408600-45418600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:45408600-45430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:45409200-45413800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:45409200-45413800	Weak transcription	Osteobl	bone
47	chr14:45409200-45415600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:45409400-45414200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:45409400-45414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:45409400-45414200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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