Variant report

Variant	rs12892302
Chromosome Location	chr14:34966936-34966937
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:34932436..34934680-chr14:34965867..34967830,2	K562	blood:
2	chr14:34800596..34801300-chr14:34965892..34967188,3	MCF-7	breast:
3	chr14:34918625..34921655-chr14:34965491..34967777,3	MCF-7	breast:
4	chr14:34800908..34801526-chr14:34966566..34967258,2	MCF-7	breast:
5	chr14:34966374..34968147-chr14:35008912..35011090,2	MCF-7	breast:
6	chr14:34959614..34962811-chr14:34966236..34969041,3	K562	blood:
7	chr14:34965733..34968231-chr14:35022336..35025245,2	MCF-7	breast:
8	chr14:34952643..34954942-chr14:34966507..34969083,2	MCF-7	breast:
9	chr14:34799548..34803609-chr14:34964477..34969425,6	MCF-7	breast:
10	chr14:34928753..34932995-chr14:34963537..34968945,14	MCF-7	breast:
11	chr14:34830829..34832701-chr14:34965153..34968151,2	MCF-7	breast:
12	chr14:34824767..34827371-chr14:34965851..34967929,2	MCF-7	breast:
13	chr14:34904297..34907073-chr14:34966756..34968463,2	MCF-7	breast:
14	chr14:34964955..34967907-chr14:34973617..34975342,2	MCF-7	breast:
15	chr14:34947380..34950273-chr14:34964851..34967790,4	MCF-7	breast:
16	chr14:34930215..34933464-chr14:34966414..34969338,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129521	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11156846	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628734	0.97[ASN][1000 genomes]
rs11849103	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12147182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878942	0.96[ASN][1000 genomes]
rs12882143	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882266	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884423	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4290395	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]
rs4592560	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4606620	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4611360	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4612961	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981499	0.92[ASN][1000 genomes]
rs61981519	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66485163	0.81[ASN][1000 genomes]
rs7147728	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149996	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150623	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151108	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151133	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151149	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003128	0.86[ASN][1000 genomes]
rs8004589	0.86[ASN][1000 genomes]
rs8013169	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020772	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12892302	EAPP	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34965200-34967400	Enhancers	Fetal Muscle Leg	muscle
2	chr14:34965200-34967600	Enhancers	HMEC	breast
3	chr14:34965400-34967000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:34965400-34967200	Flanking Active TSS	A549	lung
5	chr14:34965400-34967600	Enhancers	Esophagus	oesophagus
6	chr14:34965400-34968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:34965400-34968000	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:34965400-34968200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:34965600-34967000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:34965600-34967000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:34965600-34967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:34965600-34967000	Enhancers	Stomach Mucosa	stomach
13	chr14:34965600-34967200	Enhancers	Psoas Muscle	Psoas
14	chr14:34965600-34967200	Flanking Active TSS	Hela-S3	cervix
15	chr14:34965600-34967600	Enhancers	NHLF	lung
16	chr14:34965600-34967800	Enhancers	Fetal Stomach	stomach
17	chr14:34965800-34967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:34965800-34967000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:34965800-34967000	Enhancers	HSMM	muscle
20	chr14:34965800-34967000	Enhancers	HUVEC	blood vessel
21	chr14:34965800-34967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:34965800-34967200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:34965800-34967200	Enhancers	Colon Smooth Muscle	Colon
24	chr14:34965800-34967200	Enhancers	Placenta	Placenta
25	chr14:34966000-34967000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:34966000-34967000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:34966000-34967000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:34966000-34967000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:34966000-34967000	Enhancers	Brain Hippocampus Middle	brain
30	chr14:34966000-34967000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr14:34966000-34967000	Flanking Active TSS	NHEK	skin
32	chr14:34966000-34967200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:34966000-34967600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:34966000-34967800	Enhancers	Fetal Intestine Large	intestine
35	chr14:34966200-34967000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:34966200-34967200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:34966200-34967200	Enhancers	Ovary	ovary
38	chr14:34966400-34967000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:34966400-34967000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:34966400-34967000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:34966400-34967000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr14:34966400-34967200	Enhancers	Adipose Nuclei	Adipose
43	chr14:34966400-34967200	Enhancers	Fetal Intestine Small	intestine
44	chr14:34966400-34968200	Enhancers	Liver	Liver
45	chr14:34966400-34985400	Weak transcription	Primary B cells from cord blood	blood
46	chr14:34966600-34967000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:34966600-34967000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:34966600-34967000	Enhancers	Brain Angular Gyrus	brain
49	chr14:34966600-34967000	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:34966600-34967000	Enhancers	Brain Inferior Temporal Lobe	brain

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