Variant report

Variant	rs28496072
Chromosome Location	chr7:69425007-69425008
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	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
2	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs1000874	0.87[EUR][1000 genomes]
rs10081305	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10085600	0.85[EUR][1000 genomes]
rs10085908	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10156142	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1017113	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10215914	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10216186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228786	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10229336	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229578	0.87[EUR][1000 genomes]
rs10229588	0.85[EUR][1000 genomes]
rs10230356	0.85[EUR][1000 genomes]
rs10230750	0.85[EUR][1000 genomes]
rs10234106	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10234121	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10235098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238049	0.85[EUR][1000 genomes]
rs10239569	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10242206	0.85[EUR][1000 genomes]
rs10243408	0.87[EUR][1000 genomes]
rs10244001	0.85[EUR][1000 genomes]
rs10244128	0.85[EUR][1000 genomes]
rs10244247	0.85[EUR][1000 genomes]
rs10244885	0.81[EUR][1000 genomes]
rs10245690	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247386	0.85[EUR][1000 genomes]
rs10248237	0.87[EUR][1000 genomes]
rs10248401	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10248606	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10251433	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10254086	0.85[EUR][1000 genomes]
rs10254871	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10256093	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10256512	0.87[EUR][1000 genomes]
rs10258846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10259028	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10262102	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10263467	0.85[EUR][1000 genomes]
rs10266802	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10268729	0.85[EUR][1000 genomes]
rs10269267	0.85[EUR][1000 genomes]
rs10272781	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10274099	0.85[EUR][1000 genomes]
rs10274419	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10275112	0.81[EUR][1000 genomes]
rs10275721	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276322	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10276912	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10278001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278978	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279669	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279708	0.85[EUR][1000 genomes]
rs10281537	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10452739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10487943	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10950193	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11762049	0.87[EUR][1000 genomes]
rs11762487	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11763426	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764141	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11764397	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11764717	0.85[EUR][1000 genomes]
rs11764911	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766424	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11766980	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11768151	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769033	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11769390	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11769738	0.85[EUR][1000 genomes]
rs11770241	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11770380	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11770695	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11771751	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11771768	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771899	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11772602	0.85[EUR][1000 genomes]
rs11975506	0.85[EUR][1000 genomes]
rs11979745	0.85[EUR][1000 genomes]
rs12333653	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13362851	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13362865	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13437638	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17140884	0.85[EUR][1000 genomes]
rs17140938	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141032	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141168	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17141181	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141191	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141193	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17353920	0.81[EUR][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	0.81[EUR][1000 genomes]
rs17458713	0.81[EUR][1000 genomes]
rs2052124	0.81[EUR][1000 genomes]
rs28393394	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433534	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28464032	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28489338	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28502437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28582872	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28630917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28657792	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2865804	0.87[EUR][1000 genomes]
rs28812289	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28864527	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34080361	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800979	0.87[EUR][1000 genomes]
rs41379648	0.85[EUR][1000 genomes]
rs4364526	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4557583	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55756263	0.85[EUR][1000 genomes]
rs56376205	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56405888	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56999082	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57493471	0.85[EUR][1000 genomes]
rs58626042	0.85[EUR][1000 genomes]
rs58666988	0.87[EUR][1000 genomes]
rs58863846	0.85[EUR][1000 genomes]
rs61370051	0.85[AMR][1000 genomes]
rs6460525	0.85[EUR][1000 genomes]
rs6944701	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6945524	0.81[EUR][1000 genomes]
rs6947326	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6948174	0.94[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes]
rs6958714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961682	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6962237	0.84[EUR][1000 genomes]
rs6967512	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967788	0.85[EUR][1000 genomes]
rs6968426	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6976263	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6978818	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719294	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73154605	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73160193	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73166559	0.85[EUR][1000 genomes]
rs73168739	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73168740	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73168747	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73168758	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73170834	0.85[EUR][1000 genomes]
rs73170852	0.87[EUR][1000 genomes]
rs73170857	0.87[EUR][1000 genomes]
rs73170864	0.87[EUR][1000 genomes]
rs73171731	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73172903	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs740946	0.87[EUR][1000 genomes]
rs7777243	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7777269	0.87[EUR][1000 genomes]
rs7777621	0.87[EUR][1000 genomes]
rs7780835	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7781664	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7784950	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7797662	0.84[EUR][1000 genomes]
rs7798890	0.85[EUR][1000 genomes]
rs7801209	0.85[EUR][1000 genomes]
rs7805165	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7806413	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs917718	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs917725	0.81[EUR][1000 genomes]
rs9690738	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9690769	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69411000-69426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:69415000-69427200	Weak transcription	Fetal Kidney	kidney
4	chr7:69418000-69427000	Weak transcription	Adipose Nuclei	Adipose
5	chr7:69418600-69426800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:69418600-69427000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:69418800-69426800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:69419600-69426800	Weak transcription	Fetal Stomach	stomach
9	chr7:69420400-69426800	Weak transcription	GM12878-XiMat	blood
10	chr7:69421000-69426400	Weak transcription	Dnd41	blood
11	chr7:69421400-69426800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:69422600-69427600	Enhancers	Fetal Heart	heart
13	chr7:69423000-69425200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:69423000-69425800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:69423800-69425400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:69423800-69426000	Weak transcription	Right Atrium	heart
17	chr7:69423800-69426800	Weak transcription	Right Ventricle	heart
18	chr7:69423800-69426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:69423800-69427000	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:69423800-69427000	Weak transcription	Left Ventricle	heart
21	chr7:69423800-69428400	Enhancers	Brain Germinal Matrix	brain
22	chr7:69424000-69425800	Weak transcription	Thymus	Thymus
23	chr7:69424000-69426800	Weak transcription	Fetal Thymus	thymus
24	chr7:69424000-69427200	Weak transcription	Primary B cells from cord blood	blood
25	chr7:69424200-69426800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:69424200-69427000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:69424400-69425200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:69424400-69425600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:69424400-69427000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:69424400-69427000	Enhancers	Fetal Brain Male	brain
31	chr7:69424600-69425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:69424600-69426200	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:69424600-69426800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:69424600-69426800	Weak transcription	Psoas Muscle	Psoas
35	chr7:69424800-69425200	Enhancers	Brain Hippocampus Middle	brain
36	chr7:69424800-69427200	Enhancers	Fetal Brain Female	brain
37	chr7:69425000-69426000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:69425000-69426800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:69425000-69427000	Weak transcription	Brain Substantia Nigra	brain

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