Variant report

Variant	rs8014574
Chromosome Location	chr14:56714346-56714347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56714179..56714751-chr14:56760641..56761350,3	MCF-7	breast:
2	chr14:56713895..56714651-chr14:56940979..56941654,4	MCF-7	breast:
3	chr14:56707205..56711139-chr14:56711153..56714589,3	K562	blood:
4	chr14:56713708..56714514-chr14:57783743..57784543,2	MCF-7	breast:
5	chr14:56713948..56714469-chr14:56948717..56949355,2	MCF-7	breast:
6	chr14:56713858..56714576-chr14:56806863..56807531,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10132757	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10152004	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs1023120	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs1028973	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs1152464	0.92[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1152466	0.84[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs1152478	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs1152479	0.81[JPT][hapmap]
rs1188693	0.81[ASW][hapmap];0.87[GIH][hapmap]
rs12589133	0.91[ASN][1000 genomes]
rs12589933	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1382974	0.88[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs1382977	0.90[JPT][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17091062	0.92[CHB][hapmap];0.87[CHD][hapmap]
rs17091112	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs17091123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17091196	0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17761563	0.84[MEX][hapmap]
rs2228708	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2297610	0.84[CHB][hapmap]
rs242413	0.84[TSI][hapmap]
rs242580	0.83[YRI][hapmap]
rs242581	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs242582	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28662163	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783659	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs385141	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3898605	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs4636823	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs58116791	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61311029	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573085	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6573086	0.93[ASW][hapmap]
rs7141484	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs7141949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7143560	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7152487	0.94[ASW][hapmap];0.94[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7161103	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs7161274	0.84[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs754314	0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8009804	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011852	1.00[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8014574	C14orf166	cis	cerebellum	SCAN
rs8014574	PTGER2	cis	cerebellum	SCAN
rs8014574	ERO1L	cis	parietal	SCAN
rs8014574	ARID4A	cis	cerebellum	SCAN
rs8014574	PSMC6	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:56693200-56724400	Weak transcription	Gastric	stomach
3	chr14:56694000-56723000	Weak transcription	Lung	lung
4	chr14:56696000-56715600	Weak transcription	Fetal Thymus	thymus
5	chr14:56702600-56717600	Weak transcription	Ovary	ovary
6	chr14:56704000-56716800	Weak transcription	Fetal Intestine Small	intestine
7	chr14:56704400-56716600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:56704600-56715200	Weak transcription	Aorta	Aorta
9	chr14:56704600-56716000	Weak transcription	Primary T cells from cord blood	blood
10	chr14:56707200-56717400	Weak transcription	Pancreas	Pancrea
11	chr14:56707400-56715200	Weak transcription	Thymus	Thymus
12	chr14:56707600-56716200	Weak transcription	Primary B cells from cord blood	blood
13	chr14:56709000-56714800	Weak transcription	Dnd41	blood
14	chr14:56710600-56717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:56711200-56715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:56711200-56720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:56711400-56715400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:56711400-56716200	Weak transcription	Fetal Stomach	stomach
20	chr14:56711400-56716400	Weak transcription	Fetal Intestine Large	intestine
21	chr14:56711400-56717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:56711400-56718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:56711600-56715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:56711600-56716200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:56711600-56716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:56713800-56715400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:56714000-56716000	Enhancers	Fetal Brain Male	brain
29	chr14:56714200-56714400	Enhancers	Fetal Brain Female	brain

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