Variant report

Variant	rs4290395
Chromosome Location	chr14:34958589-34958590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34931011..34932642-chr14:34957315..34960104,2	K562	blood:
2	chr14:34930993..34932561-chr14:34956860..34958975,2	MCF-7	breast:
3	chr14:34930447..34933424-chr14:34957189..34958854,2	MCF-7	breast:
4	chr14:34957508..34960404-chr14:34964346..34966873,2	K562	blood:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11156846	0.82[ASN][1000 genomes]
rs11628734	0.88[ASN][1000 genomes]
rs11849103	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12147182	0.90[ASN][1000 genomes]
rs12878942	0.90[ASN][1000 genomes]
rs12882143	0.90[ASN][1000 genomes]
rs12882266	0.86[ASN][1000 genomes]
rs12884423	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs12892302	1.00[ASW][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3935028	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4592560	0.81[ASN][1000 genomes]
rs4606620	0.88[ASN][1000 genomes]
rs4612961	0.92[ASN][1000 genomes]
rs4981242	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61981499	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66485163	0.85[ASN][1000 genomes]
rs71293233	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7147728	0.90[ASN][1000 genomes]
rs7149996	0.90[ASN][1000 genomes]
rs7150623	0.89[ASN][1000 genomes]
rs7151108	0.90[ASN][1000 genomes]
rs7151133	0.90[ASN][1000 genomes]
rs7151149	0.90[ASN][1000 genomes]
rs8003128	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004589	0.88[ASN][1000 genomes]
rs8013169	0.82[ASN][1000 genomes]
rs8020772	0.95[CEU][hapmap];0.80[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv983813	chr14:34954942-34960575	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4290395	EAPP	cis	parietal	SCAN
rs4290395	C14orf147	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34950600-34966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:34952800-34960200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:34957400-34966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:34958000-34959000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:34958000-34959000	Enhancers	Esophagus	oesophagus
6	chr14:34958000-34959000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:34958200-34958800	Enhancers	A549	lung
8	chr14:34958200-34959000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:34958200-34959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:34958200-34959000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:34958200-34959000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:34958200-34959200	Enhancers	NHEK	skin
13	chr14:34958200-34960800	Enhancers	Placenta	Placenta
14	chr14:34958400-34959000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:34958400-34959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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