Variant report

Variant	rs7142759
Chromosome Location	chr14:70513194-70513195
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70512589..70513344-chr14:71033917..71035203,4	MCF-7	breast:
2	chr14:70512419..70513373-chr14:70784323..70785220,3	K562	blood:
3	chr14:70285209..70286076-chr14:70512433..70513309,3	MCF-7	breast:
4	chr14:70512725..70514427-chr14:70538303..70541776,3	MCF-7	breast:
5	chr14:70512446..70513366-chr14:70553622..70554466,2	MCF-7	breast:
6	chr14:70512458..70513411-chr14:70784200..70785355,5	MCF-7	breast:
7	chr14:70512409..70513219-chr14:71034395..71035122,2	MCF-7	breast:
8	chr14:70512570..70513352-chr14:70783454..70784020,2	MCF-7	breast:
9	chr14:70512370..70513411-chr14:70540384..70541688,17	MCF-7	breast:
10	chr14:70511625..70515243-chr14:70518617..70521724,3	MCF-7	breast:
11	chr14:70512608..70513510-chr14:70723957..70724907,3	MCF-7	breast:
12	chr14:70512590..70513297-chr14:70723854..70724631,4	MCF-7	breast:

No data

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10129447	0.99[ASN][1000 genomes]
rs10142899	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10873226	0.81[CHD][hapmap]
rs1122271	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.98[ASN][1000 genomes]
rs11629291	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12435978	0.93[CHD][hapmap]
rs12589441	0.81[CHD][hapmap]
rs12883784	0.81[CHD][hapmap]
rs12883884	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12884186	0.81[CHD][hapmap]
rs149250	0.81[CHD][hapmap]
rs150946	0.81[CHD][hapmap]
rs2125744	0.86[ASN][1000 genomes]
rs2169074	0.81[CHD][hapmap]
rs227434	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2839867	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3809401	0.86[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs4899323	0.84[CHD][hapmap]
rs4902771	0.84[CHD][hapmap]
rs7141091	0.91[CHD][hapmap]
rs8014694	0.93[CHD][hapmap]
rs998919	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7142759	GPHN	cis	cerebellum	SCAN
rs7142759	ZFYVE1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70509200-70514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:70510800-70515400	Weak transcription	Fetal Brain Female	brain
3	chr14:70511200-70513800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70511800-70513400	Enhancers	HMEC	breast
7	chr14:70512400-70513200	Enhancers	Liver	Liver
8	chr14:70512400-70513200	Enhancers	NHEK	skin
9	chr14:70512600-70513200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:70512600-70513200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:70512600-70513200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:70512600-70513200	Enhancers	Fetal Intestine Small	intestine
13	chr14:70512600-70513200	Enhancers	Pancreas	Pancrea
14	chr14:70512600-70514800	Flanking Active TSS	HepG2	liver
15	chr14:70512600-70516600	Weak transcription	HSMMtube	muscle
16	chr14:70512800-70513200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr14:70512800-70513200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70512800-70513200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:70512800-70514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
21	chr14:70513000-70513200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:70513000-70513200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr14:70513000-70513200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:70513000-70513200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:70513000-70513200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:70513000-70513200	Enhancers	Brain Cingulate Gyrus	brain
27	chr14:70513000-70513200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr14:70513000-70514400	Enhancers	A549	lung

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