Variant report

Variant	rs787280
Chromosome Location	chr9:115539085-115539086
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	chr9:115537609..115539652-chr9:115540859..115543192,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10115576	0.85[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs10124260	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10481638	0.81[GIH][hapmap]
rs10732374	0.81[GIH][hapmap]
rs10733594	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10733595	0.81[GIH][hapmap]
rs10733596	0.81[GIH][hapmap]
rs10733598	0.85[CEU][hapmap]
rs10733599	0.85[CEU][hapmap]
rs10739370	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10739371	0.92[ASW][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10739373	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs10739374	0.88[EUR][1000 genomes]
rs10739376	0.85[CEU][hapmap]
rs10739378	0.85[CEU][hapmap]
rs10759584	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10759587	0.95[YRI][hapmap]
rs10759590	0.85[CEU][hapmap]
rs10759596	0.81[GIH][hapmap]
rs10759598	0.81[GIH][hapmap]
rs10759603	0.85[CEU][hapmap]
rs10817380	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10817381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10817383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10817385	0.92[ASN][1000 genomes]
rs10817387	0.90[ASN][1000 genomes]
rs10817388	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs10817390	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs10817393	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10817394	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10817398	0.81[GIH][hapmap]
rs10981497	0.92[ASN][1000 genomes]
rs10981498	0.92[ASN][1000 genomes]
rs10981500	0.92[ASN][1000 genomes]
rs10981501	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10981506	0.95[ASN][1000 genomes]
rs10981510	0.90[ASN][1000 genomes]
rs10981512	1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs10981513	0.85[YRI][hapmap]
rs10981517	0.84[ASN][1000 genomes]
rs10981520	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10981522	1.00[JPT][hapmap]
rs10981524	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10981525	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10981527	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11790110	0.95[ASN][1000 genomes]
rs11792606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11794186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12235123	0.92[ASN][1000 genomes]
rs12685108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1324931	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs1361719	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361720	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418408	0.95[YRI][hapmap]
rs1418409	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1418410	0.85[CEU][hapmap];0.94[TSI][hapmap]
rs1475293	0.85[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs1539338	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1539342	0.81[GIH][hapmap]
rs1711739	0.85[CEU][hapmap]
rs1711744	0.94[TSI][hapmap]
rs1711745	0.82[CEU][hapmap]
rs1711746	0.82[CEU][hapmap]
rs1711747	0.88[TSI][hapmap]
rs1891402	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1891403	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965335	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2000204	0.99[AFR][1000 genomes]
rs2025544	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs2096185	0.82[EUR][1000 genomes]
rs2153837	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs2185768	0.84[TSI][hapmap]
rs2185769	0.85[CEU][hapmap]
rs2645991	0.88[EUR][1000 genomes]
rs2645993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645994	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs2796024	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs2796025	0.82[EUR][1000 genomes]
rs2796028	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2796031	0.88[EUR][1000 genomes]
rs2796035	0.84[EUR][1000 genomes]
rs2796037	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2798316	0.84[TSI][hapmap]
rs28494060	0.90[ASN][1000 genomes]
rs2935476	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4246892	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4304397	1.00[CEU][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs4549852	0.93[EUR][1000 genomes]
rs4604521	0.96[EUR][1000 genomes]
rs4978507	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4979148	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4979150	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4979153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4979154	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4979155	0.93[EUR][1000 genomes]
rs4979156	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4979157	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4979163	0.81[GIH][hapmap]
rs4979164	0.86[JPT][hapmap]
rs4979165	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4979170	0.85[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]
rs59721032	0.84[ASN][1000 genomes]
rs6477959	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs700122	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7030460	0.91[AFR][1000 genomes]
rs7030795	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7038684	0.86[EUR][1000 genomes]
rs7041965	0.88[EUR][1000 genomes]
rs72768411	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7856199	0.81[GIH][hapmap]
rs7859175	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7859381	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7862183	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7863952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7868830	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs786961	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs786966	0.83[TSI][hapmap]
rs786968	0.88[TSI][hapmap]
rs786977	0.88[TSI][hapmap]
rs786978	0.94[TSI][hapmap]
rs7872308	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7872628	0.96[EUR][1000 genomes]
rs787269	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787270	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787274	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787278	0.85[CEU][hapmap]
rs787279	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787281	0.96[EUR][1000 genomes]
rs787282	0.99[AFR][1000 genomes]
rs787283	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs787284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs787285	0.96[EUR][1000 genomes]
rs787286	0.96[EUR][1000 genomes]
rs787287	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs787291	0.81[EUR][1000 genomes]
rs787292	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs787294	1.00[CEU][hapmap]
rs787295	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787296	0.96[EUR][1000 genomes]
rs787297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787299	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs787301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787302	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7873289	0.85[CEU][hapmap]
rs7873644	0.95[YRI][hapmap]
rs813101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885387	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9409123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs947609	0.88[EUR][1000 genomes]
rs999018	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv515899	chr9:115359049-115593870	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
4	esv34346	chr9:115360505-115581453	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038999	chr9:115367078-115590950	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv2757350	chr9:115371397-115594108	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv471317	chr9:115375153-115558246	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2761275	chr9:115376461-115590962	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1035169	chr9:115378282-115573581	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1049451	chr9:115378282-115585109	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1047374	chr9:115378282-115590950	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1038306	chr9:115379305-115595695	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv540194	chr9:115379305-115595695	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1051909	chr9:115379505-115588377	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv540195	chr9:115379505-115588377	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv915763	chr9:115379600-115588349	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	esv3693040	chr9:115381164-115578065	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv515121	chr9:115383227-115585827	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1044168	chr9:115383253-115585109	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1048327	chr9:115383253-115589646	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1044381	chr9:115383253-115590950	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv442163	chr9:115383255-115590578	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	esv35051	chr9:115383332-115573581	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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
24	esv34763	chr9:115383332-115581453	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv430090	chr9:115383445-115594445	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1041424	chr9:115389428-115590950	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv1050186	chr9:115390759-115550453	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv1047625	chr9:115390759-115587347	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv540196	chr9:115390759-115587347	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv615198	chr9:115397206-115589251	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
32	nsv1051808	chr9:115397891-115590950	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
33	esv34739	chr9:115409445-115581453	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
34	nsv1048733	chr9:115523926-115549547	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
35	nsv1045953	chr9:115523926-115553052	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs787280	TSCOT	cis	multi-tissue	Pritchard

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115516400-115542200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:115517400-115542800	Weak transcription	HSMMtube	muscle
3	chr9:115520400-115541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:115520800-115540200	Weak transcription	NHEK	skin
5	chr9:115525400-115546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:115526800-115543200	Weak transcription	NHDF-Ad	bronchial
7	chr9:115527000-115542200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:115527000-115548600	Weak transcription	Small Intestine	intestine
9	chr9:115527200-115542000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:115527400-115540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:115527400-115542200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:115527400-115546000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:115527400-115552600	Weak transcription	Esophagus	oesophagus
14	chr9:115528800-115551400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:115530600-115545800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:115530800-115546800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:115532000-115542200	Weak transcription	Right Ventricle	heart
18	chr9:115532000-115545800	Weak transcription	Left Ventricle	heart
19	chr9:115532000-115546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:115532200-115542200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:115532200-115542200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:115532200-115544800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:115534400-115546800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:115534400-115549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:115534600-115540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:115534600-115542200	Weak transcription	Right Atrium	heart
27	chr9:115534600-115543200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:115534600-115545600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:115534800-115546800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:115535000-115548600	Weak transcription	Primary T cells from cord blood	blood
31	chr9:115535000-115549000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:115535200-115540200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:115535400-115543200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:115535600-115541400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:115535600-115545800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:115535600-115546600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:115535600-115546800	Weak transcription	Fetal Lung	lung
38	chr9:115535600-115549200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:115535600-115550600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:115535800-115542000	Weak transcription	Brain Angular Gyrus	brain
41	chr9:115535800-115542800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:115535800-115545400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:115535800-115548400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:115536000-115549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:115536400-115542000	Weak transcription	Brain Anterior Caudate	brain
46	chr9:115536400-115546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:115536400-115549000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr9:115536800-115542400	Weak transcription	Ovary	ovary
49	chr9:115537000-115540000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:115537000-115540000	Weak transcription	Liver	Liver

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