Variant report

Variant	rs28630917
Chromosome Location	chr7:69493058-69493059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1000874	0.81[EUR][1000 genomes]
rs10081305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10085908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10156142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1017113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215914	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216097	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10216186	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10227424	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10228786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10229336	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10234106	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10234121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10235098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10238049	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10239569	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10243408	0.81[EUR][1000 genomes]
rs10245690	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10245749	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10248401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10248606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10251433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10254871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10256093	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10258846	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10259028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262102	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10266802	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10272781	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10274419	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10275721	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10276322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276912	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10278001	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10278978	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10279669	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10281537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10452739	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10487943	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10950193	0.91[EUR][1000 genomes]
rs11762487	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11763426	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11764141	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11764911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766424	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11766980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769033	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11769390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770241	0.91[EUR][1000 genomes]
rs11770380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11770466	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11770695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771751	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11771768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771899	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12113743	0.82[EUR][1000 genomes]
rs12333653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13362851	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13362865	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13437638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17140938	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17141032	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17141168	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17141193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17361825	0.81[EUR][1000 genomes]
rs28393394	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28433534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28464032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28489338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28496072	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28502437	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28582872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28617759	0.82[EUR][1000 genomes]
rs28657792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2865804	0.81[EUR][1000 genomes]
rs2866276	0.82[EUR][1000 genomes]
rs28812289	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28864527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34080361	0.81[EUR][1000 genomes]
rs35862187	0.84[EUR][1000 genomes]
rs3800979	0.81[EUR][1000 genomes]
rs4364526	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4557583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56272534	0.85[ASN][1000 genomes]
rs56376205	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56405888	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56999082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57370717	0.82[EUR][1000 genomes]
rs58666988	0.81[EUR][1000 genomes]
rs60847182	0.82[EUR][1000 genomes]
rs61370051	0.85[AMR][1000 genomes]
rs6944701	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6948174	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6950849	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6958450	0.81[EUR][1000 genomes]
rs6958714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6961682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6968426	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6976263	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978818	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs719294	0.81[EUR][1000 genomes]
rs73154605	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73160193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73168739	0.81[EUR][1000 genomes]
rs73168740	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73168747	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73168758	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73171731	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73172903	0.85[AMR][1000 genomes]
rs740946	0.81[EUR][1000 genomes]
rs7777243	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7777621	0.81[EUR][1000 genomes]
rs7780665	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7780835	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7781664	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7784950	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7796273	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7797662	0.91[EUR][1000 genomes]
rs7798890	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7805165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7806413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690738	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9690769	0.95[AMR][1000 genomes];0.94[EUR][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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1028705	chr7:69453983-69524628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69477200-69507600	Weak transcription	Right Atrium	heart
2	chr7:69479800-69494000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:69483400-69495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69486400-69494000	Enhancers	Fetal Heart	heart
5	chr7:69487000-69495800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:69487000-69496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:69487000-69497600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:69489400-69495000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:69489600-69495200	Enhancers	Thymus	Thymus
10	chr7:69490400-69495400	Enhancers	Fetal Thymus	thymus
11	chr7:69491000-69494000	Enhancers	Dnd41	blood
12	chr7:69491400-69495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:69491400-69495600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:69491400-69496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:69491400-69496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:69491600-69493200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:69491600-69493200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:69491600-69493200	Weak transcription	Lung	lung
19	chr7:69491600-69495800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:69491600-69495800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:69491600-69496000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:69491600-69499800	Weak transcription	Left Ventricle	heart
23	chr7:69491800-69494400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:69492000-69493800	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:69492000-69495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:69492400-69493200	Enhancers	Fetal Lung	lung
27	chr7:69492600-69499800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:69493000-69493400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:69493000-69493400	Enhancers	Fetal Brain Male	brain
30	chr7:69493000-69493600	Enhancers	Primary B cells from cord blood	blood

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