Variant report

Variant	rs8016230
Chromosome Location	chr14:65720556-65720557
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65567923..65569908-chr14:65720468..65722497,2	MCF-7	breast:
2	chr14:65720469..65722329-chr14:65885252..65888198,2	MCF-7	breast:
3	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
4	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
5	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:
6	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
7	chr14:65720143..65726834-chr14:65876571..65883583,24	MCF-7	breast:
8	chr14:65716874..65719656-chr14:65720391..65721945,2	MCF-7	breast:
9	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-3	chr14:65720419-65720624	ENSG00000258760.1

No data

Variant related genes	Relation type
ENSG00000258878	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000125952	Chromatin interaction
ENSG00000255002	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1383595	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151754	0.82[ASW][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899169	0.86[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899171	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56231407	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61987797	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61987800	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987803	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573597	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022737	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv976853	chr14:65708032-65723266	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8016230	PLEKHH1	cis	cerebellum	SCAN
rs8016230	PIGH	cis	parietal	SCAN
rs8016230	FUT8	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65711600-65722600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:65712800-65721600	Weak transcription	Primary T cells from cord blood	blood
4	chr14:65713000-65722400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:65716200-65721800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:65716600-65722000	Weak transcription	Esophagus	oesophagus
8	chr14:65716800-65723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:65717000-65720800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:65717000-65720800	Weak transcription	A549	lung
11	chr14:65717000-65721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:65717200-65720800	Weak transcription	HepG2	liver
13	chr14:65717200-65721800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:65717200-65721800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:65717600-65721600	Weak transcription	Pancreas	Pancrea
16	chr14:65718200-65721600	Weak transcription	HUVEC	blood vessel
17	chr14:65718400-65720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:65718400-65721600	Weak transcription	Stomach Mucosa	stomach
19	chr14:65718400-65721600	Weak transcription	NH-A	brain
20	chr14:65718600-65720600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:65718600-65720800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:65718600-65721400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:65718600-65721600	Weak transcription	HSMM	muscle
24	chr14:65718600-65722000	Weak transcription	NHLF	lung
25	chr14:65718600-65722200	Weak transcription	Spleen	Spleen
26	chr14:65718600-65722400	Weak transcription	Gastric	stomach
27	chr14:65718800-65722200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:65718800-65725200	Enhancers	Placenta	Placenta
29	chr14:65719000-65721600	Enhancers	Hela-S3	cervix
30	chr14:65719000-65722000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65719200-65720600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:65719200-65720600	Enhancers	Dnd41	blood
33	chr14:65719200-65721600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:65719400-65720800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:65719400-65721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:65719600-65720600	Enhancers	Osteobl	bone
37	chr14:65719600-65720800	Enhancers	Thymus	Thymus
38	chr14:65719800-65721000	Enhancers	NHDF-Ad	bronchial
39	chr14:65720000-65721000	Enhancers	Brain Hippocampus Middle	brain
40	chr14:65720000-65722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:65720200-65721200	Enhancers	Brain Substantia Nigra	brain
42	chr14:65720200-65721600	Weak transcription	Fetal Thymus	thymus
43	chr14:65720200-65721800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:65720400-65720600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:65720400-65721000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:65720400-65725600	Enhancers	Fetal Intestine Large	intestine

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