Variant report

Variant	rs2005878
Chromosome Location	chr7:13103362-13103363
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	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
2	chr7:13100363..13102009-chr7:13102221..13104284,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10429149	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10488243	0.88[AMR][1000 genomes]
rs10488246	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10950428	0.81[AMR][1000 genomes]
rs10950431	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950432	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950433	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950434	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950437	0.84[ASN][1000 genomes]
rs10950438	0.84[ASN][1000 genomes]
rs10950439	0.84[ASN][1000 genomes]
rs10950440	0.84[ASN][1000 genomes]
rs11975327	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11983268	0.84[ASN][1000 genomes]
rs11983822	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056050	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056168	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056220	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12112570	0.84[ASN][1000 genomes]
rs12112648	0.84[AMR][1000 genomes]
rs12113090	0.84[ASN][1000 genomes]
rs12530565	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12530643	0.82[AMR][1000 genomes]
rs12530651	0.82[AMR][1000 genomes]
rs12531362	0.84[ASN][1000 genomes]
rs12531363	0.84[ASN][1000 genomes]
rs12532331	0.85[ASN][1000 genomes]
rs12533128	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534513	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534546	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536140	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536193	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537114	0.84[ASN][1000 genomes]
rs12537378	0.87[EUR][1000 genomes]
rs12537712	0.81[AMR][1000 genomes]
rs12538973	0.81[ASN][1000 genomes]
rs12539699	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12540259	0.84[ASN][1000 genomes]
rs12669843	0.85[ASN][1000 genomes]
rs12671645	0.85[ASN][1000 genomes]
rs12672647	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12674018	0.84[ASN][1000 genomes]
rs16877655	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17166605	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17166608	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17166610	0.83[AMR][1000 genomes]
rs17166612	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17166626	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17166643	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17166651	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17166653	0.82[EUR][1000 genomes]
rs17166655	0.87[EUR][1000 genomes]
rs17166658	0.87[EUR][1000 genomes]
rs17166671	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17166673	0.87[AMR][1000 genomes]
rs17166674	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17166683	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17166689	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17166711	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17166712	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17166738	0.84[ASN][1000 genomes]
rs17166756	0.85[ASN][1000 genomes]
rs1861237	0.81[EUR][1000 genomes]
rs1981639	0.85[ASN][1000 genomes]
rs2006291	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2058152	0.86[ASN][1000 genomes]
rs2058153	0.86[ASN][1000 genomes]
rs2058154	0.86[ASN][1000 genomes]
rs2108928	0.81[ASN][1000 genomes]
rs2110650	0.83[AMR][1000 genomes]
rs2160193	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2191043	0.82[ASN][1000 genomes]
rs2215221	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2215222	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357197	0.84[ASN][1000 genomes]
rs2357198	0.84[ASN][1000 genomes]
rs28639785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2884118	0.84[ASN][1000 genomes]
rs34125302	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34404228	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34932308	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35023832	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35432593	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236278	0.84[ASN][1000 genomes]
rs4636097	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4719347	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4721177	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55858291	0.81[ASN][1000 genomes]
rs55953034	0.81[ASN][1000 genomes]
rs55957561	0.85[AMR][1000 genomes]
rs56868702	0.80[ASN][1000 genomes]
rs57459966	0.87[AMR][1000 genomes]
rs57502698	0.83[ASN][1000 genomes]
rs57879982	0.83[ASN][1000 genomes]
rs59239360	0.84[ASN][1000 genomes]
rs59601961	0.84[ASN][1000 genomes]
rs59675898	0.86[AMR][1000 genomes]
rs60007632	0.84[ASN][1000 genomes]
rs60345281	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60705466	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61232028	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61403192	0.84[ASN][1000 genomes]
rs61639094	0.86[AMR][1000 genomes]
rs61652670	0.86[ASN][1000 genomes]
rs6460997	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460999	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6461000	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6461006	0.85[ASN][1000 genomes]
rs6461007	0.84[ASN][1000 genomes]
rs6461008	0.82[ASN][1000 genomes]
rs6942805	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943435	0.84[ASN][1000 genomes]
rs6948241	0.82[ASN][1000 genomes]
rs6949649	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949871	0.84[ASN][1000 genomes]
rs6949879	0.84[ASN][1000 genomes]
rs6950122	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6950414	0.81[ASN][1000 genomes]
rs6950438	0.83[AMR][1000 genomes]
rs6950752	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6954638	0.85[ASN][1000 genomes]
rs6956549	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6962417	0.84[ASN][1000 genomes]
rs6964875	0.84[ASN][1000 genomes]
rs6967484	0.83[ASN][1000 genomes]
rs6969380	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6969769	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971600	0.85[ASN][1000 genomes]
rs6974627	0.82[ASN][1000 genomes]
rs6977552	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73255876	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73257863	0.86[ASN][1000 genomes]
rs73257875	0.86[ASN][1000 genomes]
rs73257883	0.86[ASN][1000 genomes]
rs73259893	0.84[ASN][1000 genomes]
rs73259902	0.84[ASN][1000 genomes]
rs73259988	0.84[AMR][1000 genomes]
rs73259991	0.83[AMR][1000 genomes]
rs73261810	0.84[ASN][1000 genomes]
rs73261821	0.83[ASN][1000 genomes]
rs73261823	0.83[ASN][1000 genomes]
rs73261882	0.84[ASN][1000 genomes]
rs73261884	0.84[ASN][1000 genomes]
rs73261897	0.84[ASN][1000 genomes]
rs73261902	0.81[ASN][1000 genomes]
rs73261908	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73261911	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73261913	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73261923	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73261936	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73261949	0.87[EUR][1000 genomes]
rs73261954	0.88[AMR][1000 genomes]
rs73261964	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73261983	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs736198	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs738052	0.86[AMR][1000 genomes]
rs763534	0.83[AMR][1000 genomes]
rs7777803	0.81[ASN][1000 genomes]
rs7777806	0.86[ASN][1000 genomes]
rs7777911	0.83[AMR][1000 genomes]
rs7777981	0.84[ASN][1000 genomes]
rs7777989	0.84[ASN][1000 genomes]
rs7778130	0.86[ASN][1000 genomes]
rs7778632	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7778887	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781945	0.84[ASN][1000 genomes]
rs7782554	0.84[ASN][1000 genomes]
rs7783033	0.86[ASN][1000 genomes]
rs7783710	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784807	0.86[ASN][1000 genomes]
rs7784901	0.86[ASN][1000 genomes]
rs7786577	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7787776	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7787998	0.81[AMR][1000 genomes]
rs7788257	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7788484	0.86[ASN][1000 genomes]
rs7788862	0.86[ASN][1000 genomes]
rs7789174	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7789528	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7789970	0.84[ASN][1000 genomes]
rs7790328	0.83[ASN][1000 genomes]
rs7790665	0.84[ASN][1000 genomes]
rs7790770	0.84[ASN][1000 genomes]
rs7790911	0.84[ASN][1000 genomes]
rs7793289	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7793405	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793573	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7797104	0.83[AMR][1000 genomes]
rs7799356	0.85[ASN][1000 genomes]
rs7799376	0.85[ASN][1000 genomes]
rs7799629	0.85[ASN][1000 genomes]
rs7802485	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7802872	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7803001	0.84[ASN][1000 genomes]
rs7805331	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7808618	0.82[ASN][1000 genomes]
rs9639142	0.85[ASN][1000 genomes]
rs9639143	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027572	chr7:13093204-13130069	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029105	chr7:13093939-13123408	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026055	chr7:13093939-13130069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1016921	chr7:13093939-13130645	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1026551	chr7:13093939-13130746	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv437536	chr7:13100035-13152162	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv8049	chr7:13102821-13131632	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv1028182	chr7:13102902-13123408	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv2761129	chr7:13102902-13130069	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1022402	chr7:13102902-13130069	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv1034496	chr7:13102902-13275542	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:13100400-13104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:13101400-13103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:13103000-13106800	Weak transcription	HepG2	liver

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