Variant report

Variant	rs12323683
Chromosome Location	chr14:63829669-63829670
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	chr14:63823098..63825061-chr14:63826857..63829778,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10083326	0.84[EUR][1000 genomes]
rs10129511	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131511	0.82[AMR][1000 genomes]
rs10135461	0.94[EUR][1000 genomes]
rs10135846	1.00[TSI][hapmap]
rs10139582	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139766	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140003	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10140256	0.96[EUR][1000 genomes]
rs10142913	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142991	0.83[EUR][1000 genomes]
rs10143004	0.91[EUR][1000 genomes]
rs10148077	0.83[EUR][1000 genomes]
rs10150042	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10150580	0.96[EUR][1000 genomes]
rs10151995	0.81[EUR][1000 genomes]
rs11158486	0.87[EUR][1000 genomes]
rs11158487	0.90[EUR][1000 genomes]
rs11624328	0.94[EUR][1000 genomes]
rs11624485	0.90[EUR][1000 genomes]
rs12432694	0.84[EUR][1000 genomes]
rs12433884	0.85[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs12435569	0.84[EUR][1000 genomes]
rs12587233	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12590225	0.87[EUR][1000 genomes]
rs1475038	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1475039	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs2006073	0.85[EUR][1000 genomes]
rs2093019	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2093020	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2103947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2144965	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145603	0.88[GIH][hapmap];1.00[TSI][hapmap]
rs28366791	0.82[EUR][1000 genomes]
rs28375081	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28409133	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28482044	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571942	0.85[EUR][1000 genomes]
rs28789407	0.96[EUR][1000 genomes]
rs3742624	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3742625	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783747	1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs3813413	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3829766	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs57638578	0.96[EUR][1000 genomes]
rs58205667	0.96[EUR][1000 genomes]
rs60749050	0.82[AMR][1000 genomes]
rs61994988	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61994990	0.93[EUR][1000 genomes]
rs61994994	0.82[ASN][1000 genomes]
rs61994995	0.83[EUR][1000 genomes]
rs61994996	0.85[EUR][1000 genomes]
rs61994998	0.83[EUR][1000 genomes]
rs61995000	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61995003	0.82[AMR][1000 genomes]
rs6573512	0.92[TSI][hapmap]
rs6573513	0.93[GIH][hapmap];0.92[TSI][hapmap]
rs7140274	0.83[EUR][1000 genomes]
rs7141176	0.84[EUR][1000 genomes]
rs7143299	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7146445	1.00[TSI][hapmap]
rs7147454	0.83[EUR][1000 genomes]
rs7148631	0.83[EUR][1000 genomes]
rs7150819	0.85[EUR][1000 genomes]
rs7161314	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7342572	0.83[EUR][1000 genomes]
rs743221	0.93[GIH][hapmap];0.92[TSI][hapmap]
rs8004556	0.83[EUR][1000 genomes]
rs8005319	0.81[EUR][1000 genomes]
rs8015815	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs8017758	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv431011	chr14:63743247-63866686	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051684	chr14:63752916-63867677	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2751279	chr14:63754363-63871416	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2751280	chr14:63758432-63855575	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2751281	chr14:63758432-63866686	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1041108	chr14:63765661-63864885	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2761522	chr14:63765673-63867689	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519574	chr14:63767811-63857808	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1049419	chr14:63775037-63853252	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1053882	chr14:63775037-63857536	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1054848	chr14:63775037-63864885	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1044094	chr14:63775037-63865925	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1039158	chr14:63775037-63866686	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv1036375	chr14:63775037-63867296	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1050897	chr14:63775037-63867677	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv564898	chr14:63775684-63841891	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv456324	chr14:63775684-63857808	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv564899	chr14:63775684-63857808	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv1049638	chr14:63776289-63867296	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1045700	chr14:63777124-63857536	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv456325	chr14:63778748-63852177	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv564901	chr14:63778748-63852177	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv2751282	chr14:63779111-63854805	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv2753320	chr14:63779111-63854805	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv2751283	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	esv2751284	chr14:63779111-63855575	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv431012	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	nsv902018	chr14:63786658-63884984	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63821600-63830400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:63826800-63847600	Weak transcription	Left Ventricle	heart
3	chr14:63827600-63830000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:63828400-63829800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:63828400-63830000	Enhancers	Fetal Intestine Large	intestine
6	chr14:63828600-63839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:63829000-63829800	Enhancers	Brain Anterior Caudate	brain
8	chr14:63829000-63829800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:63829200-63830200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:63829400-63830000	Weak transcription	Fetal Brain Female	brain
11	chr14:63829400-63839800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:63829400-63846600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:63829400-63848000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
15	chr14:63829600-63830200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:63829600-63834800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:63829600-63850600	Weak transcription	Pancreas	Pancrea

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