Variant report

Variant	rs12303053
Chromosome Location	chr12:45903035-45903036
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	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10736027	0.87[ASN][1000 genomes]
rs10785574	0.82[ASN][1000 genomes]
rs10785575	0.87[ASN][1000 genomes]
rs10785576	0.97[ASN][1000 genomes]
rs10785578	0.92[ASN][1000 genomes]
rs10880791	0.87[ASN][1000 genomes]
rs10880794	0.95[ASN][1000 genomes]
rs10880798	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880799	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880800	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880803	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880805	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880806	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183062	0.84[ASN][1000 genomes]
rs11183067	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183068	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183069	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183070	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11183071	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11183072	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183077	0.98[ASN][1000 genomes]
rs11183078	0.98[ASN][1000 genomes]
rs11183079	0.98[ASN][1000 genomes]
rs12228136	0.81[EUR][1000 genomes]
rs12231165	0.81[ASN][1000 genomes]
rs12297127	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12298570	0.98[ASN][1000 genomes]
rs12303153	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12303449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316574	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12317115	0.98[ASN][1000 genomes]
rs12320604	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12321802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830355	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12830362	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832353	0.81[EUR][1000 genomes]
rs17096009	0.89[ASN][1000 genomes]
rs2408255	0.88[ASN][1000 genomes]
rs2408256	0.82[ASN][1000 genomes]
rs2408272	0.96[ASN][1000 genomes]
rs2408318	0.96[ASN][1000 genomes]
rs2408323	0.95[ASN][1000 genomes]
rs2897904	0.81[EUR][1000 genomes]
rs2897905	0.89[ASN][1000 genomes]
rs33971594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34265125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331166	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34865395	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35296382	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35449278	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4378456	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4567534	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4570651	0.95[ASN][1000 genomes]
rs4590938	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768090	0.97[ASN][1000 genomes]
rs4768091	0.86[ASN][1000 genomes]
rs4768623	0.95[ASN][1000 genomes]
rs5001653	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5003954	0.89[ASN][1000 genomes]
rs56217910	0.89[ASN][1000 genomes]
rs7133173	0.92[ASN][1000 genomes]
rs7311901	0.82[ASN][1000 genomes]
rs73285289	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486952	0.87[ASN][1000 genomes]
rs7968560	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv508672	chr12:45884730-45931091	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1812235	chr12:45892993-45909531	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1791767	chr12:45892993-45912862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv691	chr12:45896295-45946455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv558754	chr12:45898888-45909531	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558755	chr12:45899396-45909059	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv436159	chr12:45900973-45909922	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv819497	chr12:45900982-45909792	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3525728	chr12:45901182-45911080	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3480807	chr12:45901185-45911583	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv558756	chr12:45901586-45906271	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv558757	chr12:45901586-45908589	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv558758	chr12:45901586-45909059	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv558759	chr12:45901586-45909531	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv511498	chr12:45901586-45912862	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv558760	chr12:45901586-45913177	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv558761	chr12:45901586-45924964	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3525723	chr12:45902035-45910983	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3480785	chr12:45902110-45911058	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3525724	chr12:45902410-45910883	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv990558	chr12:45902495-45911143	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv2618852	chr12:45902531-45910720	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3525721	chr12:45902640-45910128	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3480774	chr12:45902822-45910197	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv2496065	chr12:45902952-45908448	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv512273	chr12:45903010-45909985	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3480763	chr12:45903019-45910024	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv3525727	chr12:45903031-45910054	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
7	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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