Variant report

Variant	rs28533661
Chromosome Location	chr14:104305794-104305795
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	chr14:104286358..104288545-chr14:104303445..104306380,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10083367	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1040813	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10873539	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11160758	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11160759	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11160760	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11160761	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11160762	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11160765	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1155751	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623546	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624184	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11625740	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11626377	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11628240	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11628332	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11628481	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11847468	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1187416	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12434686	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588489	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12878678	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12878682	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12878868	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12879501	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879612	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12880167	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12880233	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880368	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12880413	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12880821	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12885018	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12886840	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12889993	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12891175	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12891589	0.83[AMR][1000 genomes]
rs12892186	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12893055	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12894254	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12897150	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1475007	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1535097	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1535098	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1997913	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2024667	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2223937	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295141	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2295145	0.81[EUR][1000 genomes]
rs2368560	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28612442	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28698555	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887282	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34066659	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34813623	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35505672	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3742369	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818085	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4606645	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900594	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4900595	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4900598	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900600	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906365	0.81[EUR][1000 genomes]
rs4906371	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4906372	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906373	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55824307	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6575997	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6575999	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66509671	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67768834	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7141473	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71419615	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147171	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149024	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7152148	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7156697	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7156834	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159810	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7401843	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7401901	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003653	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004408	0.81[AMR][1000 genomes]
rs8005225	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005594	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009116	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8009147	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011109	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011137	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8013637	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8015603	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016014	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018062	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020234	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8021682	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022783	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs876002	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9743799	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104292800-104309000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:104295200-104306000	Weak transcription	HMEC	breast
4	chr14:104295200-104309000	Weak transcription	Fetal Stomach	stomach
5	chr14:104295200-104311600	Weak transcription	Liver	Liver
6	chr14:104295200-104312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
10	chr14:104299000-104305800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:104299000-104306000	Weak transcription	NHEK	skin
12	chr14:104299000-104312200	Weak transcription	Hela-S3	cervix
13	chr14:104300400-104310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:104301400-104306400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:104303000-104310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:104303200-104306000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
18	chr14:104304000-104305800	Weak transcription	Ovary	ovary
19	chr14:104304000-104306000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:104304000-104306000	Weak transcription	Fetal Kidney	kidney
21	chr14:104304000-104306000	Weak transcription	Fetal Lung	lung
22	chr14:104304000-104306400	Weak transcription	Brain Angular Gyrus	brain
23	chr14:104304000-104308800	Weak transcription	Right Atrium	heart
24	chr14:104304000-104309000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:104304000-104309000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:104304000-104310200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:104304000-104311600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:104304000-104312200	Weak transcription	Right Ventricle	heart
29	chr14:104304000-104312400	Weak transcription	Lung	lung
30	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
31	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
32	chr14:104305000-104305800	Weak transcription	Fetal Heart	heart
33	chr14:104305000-104306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:104305400-104306000	Weak transcription	Pancreas	Pancrea
35	chr14:104305400-104310600	Weak transcription	HepG2	liver
36	chr14:104305400-104312800	Weak transcription	Gastric	stomach
37	chr14:104305600-104307800	Enhancers	Left Ventricle	heart

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