Variant report

Variant	rs385141
Chromosome Location	chr14:56715726-56715727
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	chr14:56711133..56713005-chr14:56715491..56717445,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10132757	0.85[ASN][1000 genomes]
rs10152004	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1023120	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs1028973	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs1152464	0.92[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs1152466	0.84[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs1152478	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes]
rs1152479	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs1188693	0.88[ASW][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs12589133	0.90[ASN][1000 genomes]
rs12589933	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1382974	1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs1382977	0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs17091062	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs17091112	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs17091123	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap]
rs17091196	0.84[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2228708	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2297610	0.84[CHB][hapmap]
rs242581	0.95[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs242582	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242584	0.93[YRI][hapmap]
rs28662163	0.88[ASN][1000 genomes]
rs3783659	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3898605	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs4636823	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs61311029	0.88[ASN][1000 genomes]
rs6573085	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7141484	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7141949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7143560	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs7152487	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs7161103	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs7161274	0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs754314	0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8009804	0.88[ASN][1000 genomes]
rs8011852	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs8014574	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]

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

No data

Chromatin state (count:31 , 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	chr14:56702600-56717600	Weak transcription	Ovary	ovary
5	chr14:56704000-56716800	Weak transcription	Fetal Intestine Small	intestine
6	chr14:56704400-56716600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:56704600-56716000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:56707200-56717400	Weak transcription	Pancreas	Pancrea
9	chr14:56707600-56716200	Weak transcription	Primary B cells from cord blood	blood
10	chr14:56710600-56717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:56711200-56715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:56711200-56720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:56711400-56716200	Weak transcription	Fetal Stomach	stomach
15	chr14:56711400-56716400	Weak transcription	Fetal Intestine Large	intestine
16	chr14:56711400-56717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:56711400-56718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:56711600-56716200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:56711600-56716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:56714000-56716000	Enhancers	Fetal Brain Male	brain
22	chr14:56714800-56715800	Enhancers	Fetal Brain Female	brain
23	chr14:56714800-56719400	Strong transcription	Dnd41	blood
24	chr14:56715200-56717800	Strong transcription	Thymus	Thymus
25	chr14:56715400-56716200	Weak transcription	Aorta	Aorta
26	chr14:56715400-56716600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:56715400-56717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:56715400-56717800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:56715400-56718600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:56715600-56717800	Strong transcription	Fetal Thymus	thymus
31	chr14:56715600-56720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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