Variant report

Variant	rs7160912
Chromosome Location	chr14:71236728-71236729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71212723..71214667-chr14:71236445..71239410,2	MCF-7	breast:
2	chr14:71234328..71237067-chr14:71247643..71249273,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10134929	0.87[CHB][hapmap]
rs10139774	0.87[CHB][hapmap]
rs10873240	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11620710	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621269	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11622867	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11622989	0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs11626707	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs11852001	0.88[ASN][1000 genomes]
rs12433469	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437037	0.89[ASN][1000 genomes]
rs12437256	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883087	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895576	0.88[ASN][1000 genomes]
rs1548585	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17108510	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2158528	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2332457	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34307438	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35438375	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36025596	0.86[ASN][1000 genomes]
rs4899371	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4902847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902848	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902855	0.95[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs61359483	0.89[ASN][1000 genomes]
rs6573976	0.91[CHB][hapmap]
rs6573979	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147731	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7151405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153775	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7154907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161415	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72721934	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005459	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006539	0.83[CHB][hapmap];0.89[CHD][hapmap]
rs8014356	0.84[AMR][1000 genomes]
rs8014624	0.84[AMR][1000 genomes]
rs8022269	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8022410	0.84[ASN][1000 genomes]
rs8022803	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs886600	1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7160912	PRSS50	trans	cerebellum	SCAN
rs7160912	DNAL1	cis	cerebellum	SCAN

Chromatin state (count:50 , 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	chr14:71227800-71238000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:71227800-71238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:71227800-71245200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:71227800-71245600	Weak transcription	Lung	lung
29	chr14:71227800-71257800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:71228000-71237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:71228000-71238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:71228000-71238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:71228000-71238400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:71228000-71238400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:71228000-71242000	Weak transcription	GM12878-XiMat	blood
36	chr14:71228000-71245600	Weak transcription	Gastric	stomach
37	chr14:71228000-71258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:71228000-71258000	Weak transcription	A549	lung
39	chr14:71228200-71251400	Weak transcription	Fetal Brain Female	brain
40	chr14:71228200-71258000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:71233600-71238200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:71235200-71237400	Genic enhancers	NHEK	skin
43	chr14:71235400-71236800	Genic enhancers	HMEC	breast
44	chr14:71235400-71240800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:71235600-71237800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:71235600-71237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:71235600-71238200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:71236400-71236800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:71236400-71238800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:71236600-71236800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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