Variant report

Variant	rs11121557
Chromosome Location	chr1:10448260-10448261
allele	G/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	EP300	chr1:10447338-10449101	A549	lung:	n/a	n/a
2	CUX1	chr1:10448040-10448581	K562	blood:	n/a	n/a
3	ELK1	chr1:10448221-10448399	GM12878	blood:	n/a	n/a
4	SRF	chr1:10448210-10448441	GM12878	blood:	n/a	n/a
5	RCOR1	chr1:10448224-10448440	GM12878	blood:	n/a	n/a
6	SIX5	chr1:10447379-10448955	A549	lung:	n/a	chr1:10448072-10448081
7	TBP	chr1:10447962-10448536	GM12878	blood:	n/a	n/a
8	MAFK	chr1:10447915-10448536	HepG2	liver:	n/a	chr1:10448265-10448280 chr1:10448266-10448276 chr1:10448270-10448281 chr1:10448267-10448276 chr1:10448270-10448281 chr1:10448269-10448280
9	MYC	chr1:10448111-10448457	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:10447610-10448455	U87	brain:	n/a	n/a
11	MYC	chr1:10448120-10448431	K562	blood:	n/a	n/a
12	CHD2	chr1:10448242-10448324	GM12878	blood:	n/a	n/a
13	ELF1	chr1:10448205-10448562	GM12878	blood:	n/a	chr1:10448370-10448381 chr1:10448369-10448382
14	YY1	chr1:10448231-10448524	GM12878	blood:	n/a	n/a
15	RCOR1	chr1:10447917-10448539	K562	blood:	n/a	n/a
16	NR3C1	chr1:10448150-10448760	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
17	EP300	chr1:10447300-10448991	A549	lung:	n/a	n/a
18	STAT3	chr1:10447700-10448263	MCF10A-Er-Src	breast:	n/a	chr1:10448134-10448145
19	STAT3	chr1:10448213-10448401	MCF10A-Er-Src	breast:	n/a	n/a
20	REST	chr1:10447347-10449071	A549	lung:	n/a	n/a
21	MAFK	chr1:10447827-10448472	Hela-S3	cervix:	n/a	chr1:10448265-10448280 chr1:10448266-10448276 chr1:10448270-10448281 chr1:10448267-10448276 chr1:10448270-10448281 chr1:10448269-10448280
22	CEBPB	chr1:10447518-10448823	A549	lung:	n/a	chr1:10448206-10448219
23	ELF1	chr1:10448175-10448724	A549	lung:	n/a	chr1:10448370-10448381 chr1:10448369-10448382
24	BACH1	chr1:10447947-10448664	K562	blood:	n/a	n/a
25	EP300	chr1:10448233-10448502	GM12878	blood:	n/a	n/a
26	SRF	chr1:10448191-10448385	K562	blood:	n/a	n/a
27	MAZ	chr1:10447999-10448468	GM12878	blood:	n/a	n/a
28	MAFK	chr1:10447755-10448445	H1-hESC	embryonic stem cell:	n/a	chr1:10448265-10448280 chr1:10448266-10448276 chr1:10448270-10448281 chr1:10448267-10448276 chr1:10448270-10448281 chr1:10448269-10448280
29	SPI1	chr1:10448210-10448544	GM12891	blood:	n/a	chr1:10448369-10448382 chr1:10448372-10448381 chr1:10448373-10448380
30	ELF1	chr1:10448246-10448462	K562	blood:	n/a	chr1:10448370-10448381 chr1:10448369-10448382
31	POLR2A	chr1:10447510-10448556	SK-N-MC	brain:	n/a	n/a
32	MAX	chr1:10447072-10449043	A549	lung:	n/a	n/a
33	BCL3	chr1:10447442-10448785	A549	lung:	n/a	n/a
34	CEBPB	chr1:10447456-10448910	A549	lung:	n/a	chr1:10448206-10448219
35	GATA3	chr1:10447311-10448926	A549	lung:	n/a	n/a
36	NR3C1	chr1:10448233-10448746	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
37	ZNF143	chr1:10448154-10448672	K562	blood:	n/a	n/a
38	ZNF384	chr1:10448086-10448316	GM12878	blood:	n/a	n/a
39	SP1	chr1:10447356-10448907	A549	lung:	n/a	n/a
40	FOSL2	chr1:10447427-10448811	A549	lung:	n/a	chr1:10448264-10448276
41	FOS	chr1:10448019-10448438	MCF10A-Er-Src	breast:	n/a	chr1:10448264-10448276
42	STAT3	chr1:10448008-10448535	GM12878	blood:	n/a	chr1:10448134-10448145
43	TBP	chr1:10447643-10448499	Hela-S3	cervix:	n/a	n/a
44	MYC	chr1:10448179-10448398	MCF10A-Er-Src	breast:	n/a	n/a
45	NR3C1	chr1:10447505-10448868	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448002-10448020 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
46	BACH1	chr1:10447794-10448489	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBL1XR1	chr1:10448251-10448363	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:10448022-10448641	HL-60	blood:	n/a	n/a
49	MAX	chr1:10448241-10448380	K562	blood:	n/a	n/a
50	NR3C1	chr1:10448099-10448850	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10440809..10443662-chr1:10447796..10449625,2	MCF-7	breast:
4	chr1:10440159..10442885-chr1:10447718..10449584,2	MCF-7	breast:
5	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
6	chr1:10447080..10448885-chr1:10454434..10456655,2	MCF-7	breast:
7	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:

Variant related genes	Relation type
RN7SL721P	TF binding region
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1002076	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10492969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs10492971	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10492972	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10492973	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10864450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10864453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11121541	0.90[EUR][1000 genomes]
rs11121545	0.83[ASN][1000 genomes]
rs11121551	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11121552	0.83[CHD][hapmap]
rs11121555	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121560	0.90[ASN][1000 genomes]
rs11121561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121563	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11121566	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1138791	0.97[ASN][1000 genomes]
rs11576384	0.88[ASN][1000 genomes]
rs11579365	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11582123	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11585794	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs11586842	0.94[ASN][1000 genomes]
rs11587309	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11587495	0.95[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs11587854	0.97[ASN][1000 genomes]
rs12118323	0.90[ASN][1000 genomes]
rs12120042	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12120191	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12127604	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12128374	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12130220	0.83[CHD][hapmap]
rs12130563	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12131441	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12133617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12136376	0.83[CHD][hapmap]
rs12136404	0.83[EUR][1000 genomes]
rs12141201	0.97[ASN][1000 genomes]
rs12141246	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12141416	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12402723	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12403443	0.83[CHD][hapmap]
rs12403465	0.83[ASN][1000 genomes]
rs12407992	0.83[CHD][hapmap]
rs12409754	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12725210	0.83[ASN][1000 genomes]
rs12734551	0.83[CHD][hapmap]
rs12737239	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12738317	0.84[ASN][1000 genomes]
rs12746471	0.93[ASN][1000 genomes]
rs12757288	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1339458	0.83[CHD][hapmap]
rs1467653	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1536262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538557	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1555849	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1556916	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1556917	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034643	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034821	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17396973	0.83[EUR][1000 genomes]
rs17400510	0.83[CHD][hapmap]
rs17401924	0.83[CHD][hapmap]
rs17401966	0.83[CHD][hapmap]
rs17402762	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17410217	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17411502	0.83[CHD][hapmap]
rs1889309	0.83[CHD][hapmap]
rs2027330	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2039778	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2148152	0.86[ASN][1000 genomes]
rs2182326	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2185252	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2229687	0.90[ASN][1000 genomes]
rs2236678	0.90[ASN][1000 genomes]
rs2275424	0.81[CHD][hapmap]
rs34045426	0.88[ASN][1000 genomes]
rs34075302	0.84[ASN][1000 genomes]
rs34636442	0.84[ASN][1000 genomes]
rs35716098	0.90[ASN][1000 genomes]
rs35759975	0.90[ASN][1000 genomes]
rs35811280	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737155	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3748575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs3748577	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3748578	0.83[CHD][hapmap]
rs3748579	0.84[ASN][1000 genomes]
rs3748581	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753037	0.83[CHD][hapmap]
rs3762286	0.90[ASN][1000 genomes]
rs3762287	0.88[ASN][1000 genomes]
rs3762288	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4240911	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4333852	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4348727	0.81[CHD][hapmap]
rs4475756	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4529713	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4623	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4845930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4846197	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4846198	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs4846199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4846207	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4846208	0.83[CHD][hapmap]
rs4846209	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4846210	0.83[CHD][hapmap]
rs4846212	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4846216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846218	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846219	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846221	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58014725	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61326491	0.84[ASN][1000 genomes]
rs61778399	0.86[ASN][1000 genomes]
rs61778401	0.86[ASN][1000 genomes]
rs61778402	0.86[ASN][1000 genomes]
rs61778403	0.83[ASN][1000 genomes]
rs61778404	0.93[ASN][1000 genomes]
rs6541085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap]
rs6541089	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6541090	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6541094	0.92[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674843	0.83[CHD][hapmap]
rs6674949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696056	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7368073	0.82[EUR][1000 genomes]
rs746881	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7520935	0.83[CHD][hapmap]
rs7546364	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7546368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7553228	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7553935	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8019	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs912962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs912963	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9332414	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs946501	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs946503	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs946504	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs9651117	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11121557	PLEKHG5	cis	parietal	SCAN
rs11121557	PGD	cis	Muscle Skeletal	GTEx
rs11121557	APITD1	cis	cerebellum	SCAN
rs11121557	PGD	cis	parietal	SCAN
rs11121557	PGD	cis	lymphoblastoid	seeQTL
rs11121557	MTOR	cis	parietal	SCAN
rs11121557	PGD	cis	multi-tissue	Pritchard
rs11121557	PGD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10435600-10448800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10435600-10448800	Weak transcription	Gastric	stomach
3	chr1:10436800-10448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
5	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10440000-10458400	Weak transcription	Lung	lung
8	chr1:10444800-10448800	Weak transcription	Pancreas	Pancrea
9	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
11	chr1:10446000-10448600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:10446400-10448400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:10446400-10449600	Enhancers	Placenta	Placenta
14	chr1:10446400-10450400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:10446800-10449800	Enhancers	Fetal Intestine Small	intestine
16	chr1:10447000-10448600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:10447000-10448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:10447000-10448600	Enhancers	Fetal Stomach	stomach
19	chr1:10447000-10448800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:10447000-10448800	Weak transcription	Esophagus	oesophagus
21	chr1:10447000-10449000	Enhancers	Liver	Liver
22	chr1:10447000-10449000	Enhancers	Colon Smooth Muscle	Colon
23	chr1:10447000-10449000	Enhancers	Fetal Intestine Large	intestine
24	chr1:10447000-10449000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:10447000-10449200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:10447000-10449600	Enhancers	Stomach Mucosa	stomach
27	chr1:10447000-10450000	Enhancers	Fetal Thymus	thymus
28	chr1:10447200-10448400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:10447200-10448600	Enhancers	Brain Angular Gyrus	brain
30	chr1:10447200-10449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:10447200-10449600	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:10447200-10449800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr1:10447200-10450000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10447400-10448600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:10447400-10448600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:10447400-10448600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:10447400-10448600	Enhancers	Small Intestine	intestine
38	chr1:10447400-10448600	Enhancers	HMEC	breast
39	chr1:10447400-10449200	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:10447600-10448400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:10447600-10448400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:10447600-10448400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:10447600-10448400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:10447600-10448400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:10447600-10448600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:10447600-10448600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:10447600-10448600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:10447600-10448600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:10447600-10448600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:10447600-10448600	Flanking Active TSS	Hela-S3	cervix

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