Variant report

Variant	rs28493883
Chromosome Location	chr7:7471593-7471594
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	chr7:7470914..7472671-chr7:7492916..7494632,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10085771	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10085830	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10225403	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10226811	0.82[EUR][1000 genomes]
rs10234561	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10234818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10236946	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10244711	0.87[EUR][1000 genomes]
rs10246954	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10248825	0.85[EUR][1000 genomes]
rs10250746	0.87[EUR][1000 genomes]
rs10250756	0.86[EUR][1000 genomes]
rs10250860	0.86[EUR][1000 genomes]
rs10255190	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10255201	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10257694	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10263223	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10263962	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10268438	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10269244	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10280546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10486160	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10486161	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10486163	0.88[EUR][1000 genomes]
rs10486165	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10486168	0.81[EUR][1000 genomes]
rs10486173	0.87[EUR][1000 genomes]
rs10486176	0.86[EUR][1000 genomes]
rs12666561	0.92[EUR][1000 genomes]
rs12668945	0.85[EUR][1000 genomes]
rs12702613	0.85[EUR][1000 genomes]
rs1294597	0.85[EUR][1000 genomes]
rs1294598	0.94[EUR][1000 genomes]
rs1294599	0.85[EUR][1000 genomes]
rs1294601	0.85[EUR][1000 genomes]
rs1294602	0.85[EUR][1000 genomes]
rs1294603	0.85[EUR][1000 genomes]
rs1296103	0.85[EUR][1000 genomes]
rs13227277	0.85[EUR][1000 genomes]
rs13230547	0.85[EUR][1000 genomes]
rs13307616	0.83[EUR][1000 genomes]
rs16878046	0.87[EUR][1000 genomes]
rs16878052	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16878062	0.86[EUR][1000 genomes]
rs17151541	0.88[EUR][1000 genomes]
rs17151547	0.88[EUR][1000 genomes]
rs17167312	0.83[EUR][1000 genomes]
rs17167323	0.85[EUR][1000 genomes]
rs17167601	0.88[EUR][1000 genomes]
rs17167624	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17167625	0.88[EUR][1000 genomes]
rs17167690	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17167804	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17168096	0.82[EUR][1000 genomes]
rs17168127	0.83[EUR][1000 genomes]
rs17168144	0.81[EUR][1000 genomes]
rs17168145	0.81[EUR][1000 genomes]
rs17168152	0.89[EUR][1000 genomes]
rs17168215	0.81[EUR][1000 genomes]
rs17168217	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17168290	0.86[EUR][1000 genomes]
rs1860725	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1997518	0.92[EUR][1000 genomes]
rs2109772	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286839	0.88[EUR][1000 genomes]
rs28399265	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28498082	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28505765	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28669774	0.83[EUR][1000 genomes]
rs28753676	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34889595	0.83[EUR][1000 genomes]
rs35462098	0.92[EUR][1000 genomes]
rs4543457	0.85[EUR][1000 genomes]
rs55657147	0.87[EUR][1000 genomes]
rs55798422	0.85[EUR][1000 genomes]
rs55827101	0.85[EUR][1000 genomes]
rs55841745	0.91[EUR][1000 genomes]
rs55980077	0.85[EUR][1000 genomes]
rs56022797	0.83[EUR][1000 genomes]
rs56084871	0.85[EUR][1000 genomes]
rs56220786	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56330916	0.85[EUR][1000 genomes]
rs56677263	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57090364	0.89[EUR][1000 genomes]
rs57172214	0.90[EUR][1000 genomes]
rs57521604	0.81[EUR][1000 genomes]
rs57930817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58324484	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58798360	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59521144	0.89[EUR][1000 genomes]
rs60020853	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60120688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60314248	0.80[EUR][1000 genomes]
rs60668247	0.83[EUR][1000 genomes]
rs60977515	0.83[EUR][1000 genomes]
rs61543470	0.81[EUR][1000 genomes]
rs6463692	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945969	0.81[EUR][1000 genomes]
rs6946064	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6946913	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6947175	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6948300	0.81[EUR][1000 genomes]
rs6949534	0.86[EUR][1000 genomes]
rs6953394	0.85[EUR][1000 genomes]
rs6957099	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6957880	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6960158	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6962455	0.85[EUR][1000 genomes]
rs6963106	0.85[EUR][1000 genomes]
rs6964749	0.81[EUR][1000 genomes]
rs6965546	0.83[EUR][1000 genomes]
rs6967835	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6968394	0.87[EUR][1000 genomes]
rs6971367	0.85[EUR][1000 genomes]
rs6971414	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6971456	0.81[EUR][1000 genomes]
rs6972142	0.85[EUR][1000 genomes]
rs6975571	0.85[EUR][1000 genomes]
rs6977661	0.85[EUR][1000 genomes]
rs6979055	0.85[EUR][1000 genomes]
rs725933	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs725934	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73334107	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73346316	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73346330	0.85[EUR][1000 genomes]
rs7778212	0.88[EUR][1000 genomes]
rs7780426	0.85[EUR][1000 genomes]
rs7780713	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7789255	0.86[EUR][1000 genomes]
rs7804915	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7812265	0.85[EUR][1000 genomes]
rs929379	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
2	chr7:7464600-7471800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:7464600-7472600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:7464600-7480200	Weak transcription	Aorta	Aorta
5	chr7:7465000-7477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:7465000-7478600	Weak transcription	Gastric	stomach
7	chr7:7467200-7478800	Weak transcription	Ovary	ovary
8	chr7:7468000-7473400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:7468000-7473800	Weak transcription	Fetal Kidney	kidney
10	chr7:7468400-7484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:7469000-7473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:7469200-7473400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:7469400-7472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:7469400-7472800	Weak transcription	HSMM	muscle
15	chr7:7469400-7477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:7469600-7472800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:7469600-7473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:7469600-7473400	Weak transcription	Osteobl	bone
19	chr7:7469600-7478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:7469800-7472600	Weak transcription	NHDF-Ad	bronchial
21	chr7:7469800-7478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:7471200-7472000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr7:7471200-7472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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