Variant report

Variant	rs8019448
Chromosome Location	chr14:71232583-71232584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71232260..71234567-chr14:71236816..71239226,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10129495	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10131177	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131364	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141804	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147150	0.86[ASN][1000 genomes]
rs10873243	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs11158882	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs11621281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11624934	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs11625330	0.82[ASN][1000 genomes]
rs11628333	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12886990	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12887479	0.86[ASN][1000 genomes]
rs12888427	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897648	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1987652	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158530	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158531	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28420983	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36570	0.82[CHD][hapmap]
rs4902843	0.95[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs4902846	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.95[ASN][1000 genomes]
rs4902849	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66736782	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs71425216	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs71425219	0.89[ASN][1000 genomes]
rs8008802	0.86[ASN][1000 genomes]
rs8019261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8019513	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs8020663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022333	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022401	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9323548	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8019448	DNAL1	cis	cerebellum	SCAN
rs8019448	SLC2A4RG	trans	parietal	SCAN
rs8019448	PSEN1	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
2	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:71220600-71238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:71220800-71240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
11	chr14:71221000-71237600	Weak transcription	Fetal Kidney	kidney
12	chr14:71221800-71239600	Weak transcription	Liver	Liver
13	chr14:71222200-71238000	Weak transcription	Esophagus	oesophagus
14	chr14:71222200-71238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:71222200-71238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:71222200-71258200	Weak transcription	HepG2	liver
17	chr14:71222400-71238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
19	chr14:71222800-71238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:71223000-71258400	Weak transcription	Primary T cells from cord blood	blood
21	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:71223400-71240000	Weak transcription	Pancreas	Pancrea
23	chr14:71224000-71258000	Weak transcription	Dnd41	blood
24	chr14:71227600-71238000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71227800-71235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:71227800-71238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:71227800-71238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:71227800-71245200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:71227800-71245600	Weak transcription	Lung	lung
30	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:71228000-71235000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:71228000-71235200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:71228000-71236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:71228000-71237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:71228000-71238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:71228000-71238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:71228000-71238400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:71228000-71238400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:71228000-71242000	Weak transcription	GM12878-XiMat	blood
40	chr14:71228000-71245600	Weak transcription	Gastric	stomach
41	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:71228000-71258000	Weak transcription	A549	lung
43	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
44	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:71230200-71234000	Weak transcription	NHEK	skin
46	chr14:71230200-71235400	Weak transcription	HMEC	breast
47	chr14:71230400-71235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:71230600-71235200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:71232000-71233600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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