Variant report

Variant	rs750606
Chromosome Location	chr8:104428530-104428531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:104426610-104428894	K562	blood:	n/a	n/a
2	WRNIP1	chr8:104428354-104428915	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:104426433-104428920	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:104423258-104429002	IMR90	lung:	n/a	n/a
5	CHD1	chr8:104426558-104428643	GM12878	blood:	n/a	n/a
6	MYC	chr8:104425858-104428543	MCF10A-Er-Src	breast:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
7	TBP	chr8:104426090-104428588	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr8:104428182-104428980	K562	blood:	n/a	n/a
9	SIN3AK20	chr8:104426315-104428888	MCF-7	breast:	n/a	n/a
10	MXI1	chr8:104426353-104428955	GM12878	blood:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
11	BHLHE40	chr8:104428488-104428971	GM12878	blood:	n/a	n/a
12	MXI1	chr8:104426424-104428682	Hela-S3	cervix:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
13	MXI1	chr8:104425196-104428858	IMR90	lung:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
14	POLR2A	chr8:104426324-104428846	GM12891	blood:	n/a	n/a
15	NFATC1	chr8:104428189-104428904	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:104425305-104428560	PFSK-1	brain:	n/a	n/a
17	MYC	chr8:104426180-104428730	MCF10A-Er-Src	breast:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
18	MYC	chr8:104426405-104428849	K562	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
19	TBL1XR1	chr8:104427188-104428609	K562	blood:	n/a	n/a
20	MAX	chr8:104426294-104428540	A549	lung:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
21	GABPA	chr8:104426393-104428541	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:104426496-104428912	Raji	blood:	n/a	n/a
23	SIN3A	chr8:104426333-104428856	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr8:104425295-104429257	SK-N-SH	brain:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
25	MYC	chr8:104426448-104428725	K562	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
26	MAZ	chr8:104428306-104428990	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:50353062..50354689-chr8:104427173..104429081,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104427774..104429306-chr8:104457033..104459237,2	MCF-7	breast:
4	chr8:104427653..104431566-chr8:104442876..104445476,3	K562	blood:
5	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
6	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:
7	chr8:104428226..104429911-chr8:104523222..104524939,2	MCF-7	breast:
8	chr16:4743346..4745302-chr8:104426942..104429289,2	MCF-7	breast:
9	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:
10	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000198355	Chromatin interaction
ENSG00000253477	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000176406	Chromatin interaction
ENSG00000168101	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1061195	0.93[ASN][1000 genomes]
rs11780843	0.81[ASN][1000 genomes]
rs12677876	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370005	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1370006	0.98[ASN][1000 genomes]
rs1436595	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1436597	0.87[ASN][1000 genomes]
rs1436598	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1436599	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16870396	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1865853	0.92[ASN][1000 genomes]
rs1865854	0.92[ASN][1000 genomes]
rs1865855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2082971	0.93[ASN][1000 genomes]
rs2118057	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs2241777	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2241778	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2304501	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2388720	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2575691	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2575692	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2575693	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2687348	0.83[ASN][1000 genomes]
rs2687350	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2687359	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2687364	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2917549	0.81[ASN][1000 genomes]
rs2917551	0.85[ASN][1000 genomes]
rs2948446	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2948452	0.80[ASN][1000 genomes]
rs3098212	0.92[ASN][1000 genomes]
rs3098214	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3098215	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs3098217	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs3098218	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3098219	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3098220	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3098221	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3098222	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3098223	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3098224	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs3098225	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3098227	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.98[ASN][1000 genomes]
rs3098228	0.82[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3098232	0.82[ASW][hapmap]
rs3098233	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3098236	0.98[ASN][1000 genomes]
rs3098237	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3098240	0.90[ASN][1000 genomes]
rs3098241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098242	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3098243	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3098244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098245	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098248	0.89[ASN][1000 genomes]
rs3098249	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3098250	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3098255	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3098256	0.88[ASN][1000 genomes]
rs3098257	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098258	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098259	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3098260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133800	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3133804	0.89[ASN][1000 genomes]
rs3133807	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133809	0.88[ASN][1000 genomes]
rs3133811	0.95[ASN][1000 genomes]
rs3133813	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3133814	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3133815	0.99[ASN][1000 genomes]
rs3133816	0.99[ASN][1000 genomes]
rs3133817	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.99[ASN][1000 genomes]
rs3133819	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134250	0.96[ASN][1000 genomes]
rs3134251	0.92[ASN][1000 genomes]
rs3134253	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3134254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134255	0.97[ASN][1000 genomes]
rs3134258	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134261	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134264	0.93[ASN][1000 genomes]
rs3134265	0.98[ASN][1000 genomes]
rs3134266	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134267	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3134270	0.96[ASN][1000 genomes]
rs3134271	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs3134272	0.92[ASN][1000 genomes]
rs3134273	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3134275	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134277	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs3134278	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3134279	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134280	0.88[ASN][1000 genomes]
rs3134281	0.92[ASN][1000 genomes]
rs3134282	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3134285	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134287	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134289	0.95[ASN][1000 genomes]
rs3134290	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134291	0.95[ASN][1000 genomes]
rs3134292	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3134293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134295	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134296	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134297	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.99[ASN][1000 genomes]
rs7816297	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs893044	0.92[ASN][1000 genomes]
rs975440	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs750606	ZFPM2	cis	cerebellum	SCAN
rs750606	SLC25A32	cis	cerebellum	SCAN
rs750606	DCAF13	cis	Muscle Skeletal	GTEx
rs750606	SLC25A32	Cis_1M	lymphoblastoid	RTeQTL
rs750606	SLC25A32	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
2	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:104424600-104428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104425400-104429200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:104425600-104428600	Active TSS	Psoas Muscle	Psoas
6	chr8:104425600-104428600	Active TSS	Right Ventricle	heart
7	chr8:104425600-104429000	Active TSS	Right Atrium	heart
8	chr8:104425600-104429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104425800-104428600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:104425800-104428600	Active TSS	HSMMtube	muscle
11	chr8:104425800-104428600	Active TSS	NHDF-Ad	bronchial
12	chr8:104425800-104428800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104425800-104428800	Active TSS	K562	blood
14	chr8:104425800-104429000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:104425800-104429000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:104425800-104429000	Active TSS	HSMM	muscle
17	chr8:104425800-104429200	Active TSS	NHLF	lung
18	chr8:104426000-104428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:104426000-104428600	Active TSS	Primary T cells fromperipheralblood	blood
20	chr8:104426000-104428600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:104426000-104428800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:104426000-104428800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:104426000-104429000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:104426000-104429200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:104426000-104429200	Active TSS	A549	lung
26	chr8:104426200-104428600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:104426200-104428600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:104426200-104428600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:104426200-104428600	Active TSS	Fetal Thymus	thymus
30	chr8:104426200-104428600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:104426200-104428600	Active TSS	NHEK	skin
32	chr8:104426200-104428800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:104426200-104428800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:104426200-104428800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:104426200-104429000	Active TSS	Fetal Intestine Large	intestine
36	chr8:104426200-104429200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:104426400-104428600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:104426400-104428600	Active TSS	Stomach Mucosa	stomach
39	chr8:104426400-104428800	Active TSS	Aorta	Aorta
40	chr8:104426400-104428800	Active TSS	Colonic Mucosa	Colon
41	chr8:104426400-104428800	Active TSS	Fetal Muscle Trunk	muscle
42	chr8:104426400-104429000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:104426400-104429000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:104426400-104429200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:104426600-104428600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:104426600-104428600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:104426600-104428600	Active TSS	Esophagus	oesophagus
48	chr8:104426600-104428600	Active TSS	Gastric	stomach
49	chr8:104426600-104428600	Active TSS	Left Ventricle	heart
50	chr8:104426600-104428600	Active TSS	Lung	lung

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