Variant report

Variant	rs10431614
Chromosome Location	chr14:35084814-35084815
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	chr14:35082678..35085560-chr14:35098441..35100548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129515	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10129588	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10130504	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10134991	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10145193	0.89[EUR][1000 genomes]
rs10151057	0.89[EUR][1000 genomes]
rs10151255	0.88[EUR][1000 genomes]
rs10151653	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151959	0.92[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs10872888	0.84[EUR][1000 genomes]
rs10872889	0.83[EUR][1000 genomes]
rs11156848	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[ASN][1000 genomes]
rs11156851	0.87[EUR][1000 genomes]
rs11622002	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11847241	0.93[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs11847568	0.89[EUR][1000 genomes]
rs12147949	0.92[CEU][hapmap];0.83[GIH][hapmap];0.88[TSI][hapmap]
rs12431530	1.00[ASN][1000 genomes]
rs12879294	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881595	0.89[ASN][1000 genomes]
rs12883981	0.93[CEU][hapmap];0.82[JPT][hapmap]
rs12895457	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs28651798	0.80[GIH][hapmap];0.82[TSI][hapmap]
rs28688993	0.96[EUR][1000 genomes]
rs34755567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34939235	0.83[ASN][1000 genomes]
rs35239119	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36068893	0.89[EUR][1000 genomes]
rs3809450	0.89[EUR][1000 genomes]
rs3809451	0.89[EUR][1000 genomes]
rs3809452	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs3923104	0.87[EUR][1000 genomes]
rs3958	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4268668	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs4312221	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347522	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4479126	0.82[EUR][1000 genomes]
rs4981245	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4982192	0.93[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs4982194	0.89[EUR][1000 genomes]
rs4982195	0.89[EUR][1000 genomes]
rs4982196	0.89[EUR][1000 genomes]
rs4982197	0.86[EUR][1000 genomes]
rs61553463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979724	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571665	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6650498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71421903	0.84[EUR][1000 genomes]
rs7144356	0.89[EUR][1000 genomes]
rs7144711	1.00[CEU][hapmap]
rs7153918	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7157392	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161203	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161260	0.89[EUR][1000 genomes]
rs7797	0.80[GIH][hapmap];0.82[TSI][hapmap]
rs8014673	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8019556	0.96[CEU][hapmap];0.83[GIH][hapmap];0.88[TSI][hapmap]
rs8021267	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9264	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9652316	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10431614	EAPP	cis	parietal	SCAN
rs10431614	EAPP	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35045800-35089200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:35058400-35089200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:35068600-35089200	Weak transcription	Stomach Mucosa	stomach
8	chr14:35069400-35089400	Weak transcription	Fetal Heart	heart
9	chr14:35070200-35091800	Weak transcription	Psoas Muscle	Psoas
10	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:35073400-35091800	Weak transcription	Fetal Brain Male	brain
12	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:35073800-35088800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:35074000-35090400	Weak transcription	Fetal Kidney	kidney
15	chr14:35074200-35091800	Weak transcription	K562	blood
16	chr14:35075000-35090200	Strong transcription	Fetal Intestine Small	intestine
17	chr14:35075000-35090400	Weak transcription	Hela-S3	cervix
18	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
19	chr14:35077000-35091800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:35077000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
22	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
23	chr14:35077400-35085600	Weak transcription	HMEC	breast
24	chr14:35077400-35090200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:35077600-35089200	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:35077600-35090200	Weak transcription	Spleen	Spleen
27	chr14:35077600-35090600	Weak transcription	Brain Substantia Nigra	brain
28	chr14:35077600-35091800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:35077600-35091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:35077600-35092200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
33	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:35077800-35086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:35078000-35085600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:35078000-35085600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:35078000-35085800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:35078000-35089600	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:35078000-35091800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:35078000-35091800	Weak transcription	Brain Angular Gyrus	brain
42	chr14:35078000-35092200	Weak transcription	Small Intestine	intestine
43	chr14:35078000-35098000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:35078000-35098000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:35078000-35098200	Weak transcription	Ovary	ovary
46	chr14:35078200-35086200	Weak transcription	Colonic Mucosa	Colon
47	chr14:35078200-35088800	Weak transcription	Right Ventricle	heart
48	chr14:35078200-35098600	Weak transcription	Gastric	stomach
49	chr14:35078400-35085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:35078400-35092200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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