Variant report

Variant	rs2489186
Chromosome Location	chr1:92297055-92297056
allele	A/G
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	FOXA1	chr1:92297022-92297403	HepG2	liver:	n/a	n/a
2	FOXA2	chr1:92296722-92297853	HepG2	liver:	n/a	chr1:92296926-92296938
3	POLR2A	chr1:92296916-92297093	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr1:92297018-92297467	HepG2	liver:	n/a	chr1:92297070-92297084
5	MYBL2	chr1:92296964-92297518	HepG2	liver:	n/a	n/a
6	EP300	chr1:92296722-92297433	Hela-S3	cervix:	n/a	chr1:92297070-92297084
7	TCF7L2	chr1:92295741-92297496	Hela-S3	cervix:	n/a	chr1:92297269-92297278
8	RFX5	chr1:92296728-92297109	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr1:92297007-92297518	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:92295590-92297246	HepG2	liver:	n/a	n/a
11	RCOR1	chr1:92295319-92297229	IMR90	lung:	n/a	n/a
12	RCOR1	chr1:92296862-92297238	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:92296543-92297105	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr1:92296970-92297548	HepG2	liver:	n/a	n/a
15	EP300	chr1:92296981-92297534	HepG2	liver:	n/a	chr1:92297070-92297084
16	ARID3A	chr1:92296732-92297514	HepG2	liver:	n/a	chr1:92297485-92297501

Variant related genes	Relation type
RN7SL653P	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1032255	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10874980	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs11165578	0.91[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11576557	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs11799400	0.82[ASW][hapmap];0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12027931	0.88[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs1352438	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1488692	0.89[CEU][hapmap]
rs1805109	0.82[ASW][hapmap];0.89[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805110	0.82[ASW][hapmap];0.89[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1906586	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2046737	0.89[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2087300	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256471	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265863	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2391070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450926	0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2450927	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489169	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489170	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489171	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489176	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489178	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489185	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489189	0.82[ASW][hapmap];0.89[CEU][hapmap];0.85[MEX][hapmap]
rs2489192	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634019	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634020	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2634022	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634023	0.88[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634024	0.89[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634025	0.89[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634026	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634027	0.85[EUR][1000 genomes]
rs2634028	1.00[ASW][hapmap];0.89[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634029	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634030	0.82[ASW][hapmap];0.89[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2634033	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2634034	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799512	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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799514	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799515	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799516	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799517	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799521	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2799522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799523	0.86[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799524	0.89[CEU][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799525	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799526	0.85[JPT][hapmap]
rs2799539	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2810903	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284141	0.84[EUR][1000 genomes]
rs284146	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284148	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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284150	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284151	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284156	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.87[ASN][1000 genomes]
rs284157	0.91[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs284160	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284161	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284162	0.89[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284163	1.00[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284164	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3103333	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs428815	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs449960	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604062	0.80[MKK][hapmap]
rs717923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550856	0.86[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs901913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901914	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901915	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2489186	GLMN	cis	parietal	SCAN
rs2489186	RPL5	cis	cerebellum	SCAN
rs2489186	EPHX4	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92293400-92297200	Enhancers	Fetal Muscle Leg	muscle
2	chr1:92293400-92297600	Enhancers	Fetal Kidney	kidney
3	chr1:92293400-92298000	Enhancers	Fetal Heart	heart
4	chr1:92294200-92297200	Enhancers	Ovary	ovary
5	chr1:92294200-92297800	Enhancers	Liver	Liver
6	chr1:92294600-92298200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:92294600-92298600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:92294800-92311600	Weak transcription	Gastric	stomach
9	chr1:92295200-92297600	Weak transcription	NHEK	skin
10	chr1:92295400-92297200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:92295400-92297200	Enhancers	Fetal Intestine Large	intestine
12	chr1:92295400-92297200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:92295400-92297400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:92295400-92297400	Enhancers	GM12878-XiMat	blood
15	chr1:92295400-92297400	Genic enhancers	NHDF-Ad	bronchial
16	chr1:92295600-92297200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:92295600-92297200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:92295600-92297200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:92295600-92297200	Enhancers	Fetal Intestine Small	intestine
20	chr1:92295600-92297200	Flanking Active TSS	HepG2	liver
21	chr1:92295600-92297800	Enhancers	Fetal Lung	lung
22	chr1:92295600-92298000	Enhancers	NHLF	lung
23	chr1:92295800-92297200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:92296000-92297400	Flanking Active TSS	Hela-S3	cervix
25	chr1:92296200-92297200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:92296200-92297200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:92296200-92298200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:92296400-92297200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:92296400-92298000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:92296400-92335800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:92296600-92297200	Enhancers	Fetal Stomach	stomach
32	chr1:92296600-92297200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:92296600-92297200	Enhancers	Small Intestine	intestine
34	chr1:92296600-92297400	Enhancers	Adipose Nuclei	Adipose
35	chr1:92296600-92297600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:92296600-92297800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:92296600-92297800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:92296600-92297800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:92296600-92298000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:92296600-92298200	Enhancers	Colon Smooth Muscle	Colon
41	chr1:92296600-92298200	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:92296600-92298200	Enhancers	A549	lung
43	chr1:92296600-92298400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:92296800-92298600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:92296800-92299400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:92296800-92300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:92296800-92307400	Weak transcription	Lung	lung
48	chr1:92296800-92307800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:92296800-92309400	Weak transcription	Left Ventricle	heart
50	chr1:92296800-92311400	Weak transcription	Stomach Mucosa	stomach

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