Variant report

Variant	rs12818596
Chromosome Location	chr12:124180474-124180475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124176790..124178829-chr12:124179921..124182332,2	K562	blood:
2	chr12:124180128..124181646-chr12:124198369..124200192,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10160937	0.83[ASN][1000 genomes]
rs1040156	0.83[ASN][1000 genomes]
rs1051793	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060637	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1060639	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10732574	0.83[ASN][1000 genomes]
rs10734903	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10734905	0.83[ASN][1000 genomes]
rs10734906	0.83[ASN][1000 genomes]
rs10744157	0.83[ASN][1000 genomes]
rs10744158	0.83[ASN][1000 genomes]
rs10744159	0.83[ASN][1000 genomes]
rs10773026	0.83[ASN][1000 genomes]
rs10773030	0.83[ASN][1000 genomes]
rs10846537	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846549	0.86[ASN][1000 genomes]
rs10846550	0.81[ASN][1000 genomes]
rs1139320	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139789	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11572920	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11572952	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11609591	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610473	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611354	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611450	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612030	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612479	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612927	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613632	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614468	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614659	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615162	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829958	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834141	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834492	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834808	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837144	0.83[ASN][1000 genomes]
rs12580486	0.83[ASN][1000 genomes]
rs12811354	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813758	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12817576	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817757	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819746	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820195	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822546	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823866	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824075	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825800	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827074	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828408	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828633	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829893	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829984	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830927	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399961	0.83[ASN][1000 genomes]
rs1515815	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1878077	0.83[ASN][1000 genomes]
rs1962020	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2176152	0.83[ASN][1000 genomes]
rs2203500	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222060	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271660	0.83[ASN][1000 genomes]
rs2271661	0.83[ASN][1000 genomes]
rs2271662	0.83[ASN][1000 genomes]
rs2333836	0.83[ASN][1000 genomes]
rs2333838	0.83[ASN][1000 genomes]
rs2333839	0.83[ASN][1000 genomes]
rs2333840	0.83[ASN][1000 genomes]
rs34534928	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996665	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35114195	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158437	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35416308	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649708	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35804181	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35900897	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35911711	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35946281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36018806	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817309	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930708	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488888	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488891	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488892	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488893	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488894	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488897	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66471742	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66647364	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66690784	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67178535	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67516712	0.84[EUR][1000 genomes]
rs7132115	0.83[ASN][1000 genomes]
rs7133199	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133543	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133734	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7134074	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135267	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135660	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136939	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138503	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71458814	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7294984	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295552	0.83[ASN][1000 genomes]
rs7296804	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297576	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298440	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298831	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300721	0.83[ASN][1000 genomes]
rs7301065	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301641	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302649	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302788	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305701	0.93[ASN][1000 genomes]
rs7305838	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306549	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307008	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307343	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308234	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308398	0.83[ASN][1000 genomes]
rs7308862	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309528	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310918	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311789	0.83[ASN][1000 genomes]
rs7313032	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313140	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313261	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73219037	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397160	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397230	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397930	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398082	0.83[ASN][1000 genomes]
rs7398152	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398298	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7399128	0.83[ASN][1000 genomes]
rs7399224	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953596	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953599	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956751	0.83[ASN][1000 genomes]
rs7957429	1.00[ASN][1000 genomes]
rs7958693	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959553	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960017	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7960403	0.83[ASN][1000 genomes]
rs7960951	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963498	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963968	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964443	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968029	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969130	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969234	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969964	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973155	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973695	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974279	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974331	0.83[ASN][1000 genomes]
rs7975119	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975233	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978447	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979528	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968203	0.83[ASN][1000 genomes]
rs9787987	0.80[EUR][1000 genomes];0.83[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	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv519344	chr12:124171903-124194438	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12818596	TCTN2	cis	Thyroid	GTEx
rs12818596	ATP6V0A2	cis	Nerve Tibial	GTEx
rs12818596	ATP6V0A2	cis	Adipose Subcutaneous	GTEx
rs12818596	TCTN2	cis	Artery Tibial	GTEx
rs12818596	TCTN2	cis	Muscle Skeletal	GTEx
rs12818596	TCTN2	cis	Esophagus Muscularis	GTEx
rs12818596	TCTN2	cis	Nerve Tibial	GTEx
rs12818596	TCTN2	cis	Skin Sun Exposed Lower leg	GTEx
rs12818596	TCTN2	cis	Adipose Subcutaneous	GTEx
rs12818596	TCTN2	cis	lung	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124156200-124182000	Weak transcription	Small Intestine	intestine
2	chr12:124156400-124196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:124156400-124196000	Weak transcription	Thymus	Thymus
4	chr12:124156600-124180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:124156600-124189800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:124156600-124195600	Weak transcription	Esophagus	oesophagus
7	chr12:124156600-124195800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:124156600-124195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:124156600-124196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:124156600-124196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:124156600-124196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:124156600-124196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:124156800-124181000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:124156800-124181000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:124156800-124184000	Weak transcription	HepG2	liver
16	chr12:124156800-124186600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:124156800-124196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:124156800-124196000	Weak transcription	HUVEC	blood vessel
19	chr12:124156800-124196200	Weak transcription	HSMM	muscle
20	chr12:124157000-124193000	Strong transcription	Fetal Stomach	stomach
21	chr12:124157000-124196000	Weak transcription	Fetal Heart	heart
22	chr12:124157000-124196000	Weak transcription	NH-A	brain
23	chr12:124158400-124193800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:124159800-124183800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:124160000-124181400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:124160000-124184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:124160000-124195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:124160200-124180600	Weak transcription	Fetal Kidney	kidney
29	chr12:124160200-124191000	Weak transcription	Colonic Mucosa	Colon
30	chr12:124160200-124195800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:124160200-124196000	Weak transcription	Right Ventricle	heart
32	chr12:124160400-124181000	Weak transcription	NHDF-Ad	bronchial
33	chr12:124160800-124181000	Weak transcription	Primary T cells from cord blood	blood
34	chr12:124160800-124182800	Weak transcription	Dnd41	blood
35	chr12:124161600-124196000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:124161800-124180800	Weak transcription	Fetal Brain Male	brain
37	chr12:124161800-124183000	Weak transcription	Placenta	Placenta
38	chr12:124161800-124195800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:124164200-124186600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:124164200-124195800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:124164200-124196000	Weak transcription	Fetal Thymus	thymus
42	chr12:124166200-124195800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:124166800-124183200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:124166800-124189000	Weak transcription	HSMMtube	muscle
45	chr12:124166800-124196000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:124168400-124184800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:124168400-124187600	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:124169400-124183800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:124169600-124187400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:124169800-124184200	Weak transcription	NHLF	lung

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