Variant report

Variant	rs12519554
Chromosome Location	chr5:43283343-43283344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43282815-43284137	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:43282695-43285365	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:43283287-43283348	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:43283153-43283521	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43244137..43245817-chr5:43282614..43284616,2	K562	blood:
2	chr5:43281299..43283617-chr5:43312070..43313833,2	MCF-7	breast:
3	chr5:43273394..43275748-chr5:43280476..43283890,4	MCF-7	breast:
4	chr5:43281257..43283520-chr5:43288770..43290415,2	MCF-7	breast:
5	chr5:43169639..43171793-chr5:43280428..43283360,2	K562	blood:
6	chr5:43281291..43285706-chr5:43286078..43291323,6	K562	blood:
7	chr5:43279575..43284829-chr5:43285090..43288723,5	K562	blood:
8	chr5:43281164..43284065-chr5:43555671..43558619,2	MCF-7	breast:
9	chr5:43280478..43282022-chr5:43282133..43284578,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261604	TF binding region
ENSG00000261604	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10039048	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs10039617	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs10065852	0.92[CEU][hapmap]
rs10462047	0.86[EUR][1000 genomes]
rs10462048	0.96[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs10512825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512827	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10512828	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10805671	0.92[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs10805672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805673	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805674	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805675	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941623	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941628	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10941630	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10941631	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941632	0.81[ASN][1000 genomes]
rs11738086	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11739009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11739665	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741797	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs11742171	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743622	0.92[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs11743633	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs11746629	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747105	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11747834	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11950040	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs11950448	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11951515	1.00[CHB][hapmap]
rs11951584	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11956635	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs11956936	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11956988	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11960415	0.81[ASN][1000 genomes]
rs12109933	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189016	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12189447	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513864	0.81[ASN][1000 genomes]
rs12514393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12514399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12515072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516435	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12517362	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518127	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12520012	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520895	0.81[ASN][1000 genomes]
rs12522178	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1545753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1564196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564198	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs17244818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2086133	0.90[EUR][1000 genomes]
rs2126948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2126949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2169781	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2330242	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35231094	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239179	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733768	0.92[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs3733769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756416	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs4050485	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4254917	0.82[EUR][1000 genomes]
rs4288122	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4320264	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373285	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4395639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443425	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4443426	0.88[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4574553	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4591755	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4866734	0.88[EUR][1000 genomes]
rs4866737	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866741	0.89[CEU][hapmap]
rs4866813	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs4866820	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4866821	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4866822	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4866824	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4866825	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55634155	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55647314	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759097	0.81[ASN][1000 genomes]
rs55759722	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55794239	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55800451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820064	0.84[ASN][1000 genomes]
rs55939301	0.89[ASN][1000 genomes]
rs55992392	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56023994	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56029402	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56071328	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56114604	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56185290	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56206275	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56331753	0.84[ASN][1000 genomes]
rs57066570	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57392430	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57401732	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58358642	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58679159	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58966636	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59078439	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59625262	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59814709	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60207549	0.86[EUR][1000 genomes]
rs60445501	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61627503	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451684	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs66585077	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66691321	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66914803	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67415672	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67497876	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67620667	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67651757	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67817333	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863246	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6863360	0.83[EUR][1000 genomes]
rs6867954	0.81[ASN][1000 genomes]
rs6886499	0.92[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887351	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6895805	0.92[EUR][1000 genomes]
rs6898398	0.82[EUR][1000 genomes]
rs7380703	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7701391	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7704588	0.92[CEU][hapmap]
rs7708779	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714027	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7714919	0.83[EUR][1000 genomes]
rs7716091	0.92[CEU][hapmap]
rs7720165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720681	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[TSI][hapmap]
rs7727047	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[TSI][hapmap]
rs7734293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922439	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs9292871	0.92[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs9790987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12519554	NNT	Cis_1M	lymphoblastoid	RTeQTL
rs12519554	HMGCS1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43274400-43287000	Weak transcription	Left Ventricle	heart
2	chr5:43274600-43285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:43274600-43286800	Weak transcription	Esophagus	oesophagus
4	chr5:43274800-43286400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:43274800-43286600	Weak transcription	Stomach Mucosa	stomach
6	chr5:43275000-43286400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:43275000-43286400	Weak transcription	GM12878-XiMat	blood
8	chr5:43275000-43286600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:43275600-43286400	Weak transcription	Fetal Brain Female	brain
10	chr5:43275800-43286800	Weak transcription	Liver	Liver
11	chr5:43275800-43286800	Weak transcription	Gastric	stomach
12	chr5:43276600-43286200	Weak transcription	Brain Germinal Matrix	brain
13	chr5:43276600-43286600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:43277800-43286800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:43280400-43286400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:43280600-43286400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:43280600-43286600	Weak transcription	Brain Substantia Nigra	brain
18	chr5:43280600-43286800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:43280800-43286600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:43281200-43284000	Enhancers	HMEC	breast
21	chr5:43281400-43283600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:43281400-43283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:43281400-43284000	Enhancers	K562	blood
24	chr5:43281400-43284000	Enhancers	NHEK	skin
25	chr5:43281600-43285000	Weak transcription	A549	lung
26	chr5:43281600-43285600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:43281600-43286200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:43281800-43286800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:43282000-43286800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:43282600-43285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:43282600-43286200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:43282600-43286200	Weak transcription	HSMMtube	muscle
33	chr5:43282600-43286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:43282600-43286600	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:43282600-43286800	Weak transcription	Brain Anterior Caudate	brain
36	chr5:43282800-43286400	Weak transcription	Fetal Heart	heart
37	chr5:43282800-43286600	Weak transcription	Fetal Lung	lung
38	chr5:43282800-43286800	Weak transcription	Primary B cells from cord blood	blood
39	chr5:43282800-43292800	Weak transcription	Hela-S3	cervix
40	chr5:43283000-43286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:43283000-43286800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:43283000-43286800	Weak transcription	Lung	lung
43	chr5:43283200-43283400	Enhancers	Thymus	Thymus
44	chr5:43283200-43283800	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr5:43283200-43286600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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