Variant report

Variant	rs200195287
Chromosome Location	chr5:69321892-69321893
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	TAF1	chr5:69320909-69321945	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:69320734-69322102	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:69320825-69321965	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:69320870-69322198	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:69320881-69321980	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr5:69320866-69322015	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr5:69321262-69321933	GM12878	blood:	n/a	n/a
8	SPI1	chr5:69321892-69322146	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:69321678-69321896	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:69321656-69321958	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:69320800-69322025	GM12892	blood:	n/a	n/a
12	IRF4	chr5:69320986-69321953	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:69320973-69322011	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr5:69320963-69321900	GM12891	blood:	n/a	n/a
15	POU2F2	chr5:69320834-69322021	GM12878	blood:	n/a	chr5:69321343-69321355 chr5:69321350-69321362 chr5:69321690-69321703
16	PAX5	chr5:69320908-69321996	GM12878	blood:	n/a	chr5:69321926-69321935 chr5:69321068-69321077
17	POLR2A	chr5:69320847-69322446	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr5:69320975-69321915	GM12891	blood:	n/a	n/a
19	IRF4	chr5:69321533-69321939	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:69320882-69321965	GM12891	blood:	n/a	n/a
21	POU2F2	chr5:69320935-69321996	GM12891	blood:	n/a	chr5:69321343-69321355 chr5:69321350-69321362 chr5:69321690-69321703
22	POLR2A	chr5:69320877-69322128	GM12892	blood:	n/a	n/a
23	POLR2A	chr5:69320930-69321965	GM12891	blood:	n/a	n/a
24	POLR2A	chr5:69320859-69322089	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:69320928-69321921	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SERF1B	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32846	chr5:68829015-69705591	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1795268	chr5:68955543-69681690	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv13923	chr5:68957466-69497579	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1826478	chr5:68958370-69461956	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1802173	chr5:68958423-69705657	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv881775	chr5:68963262-69403982	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv881776	chr5:68977250-69405087	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv881777	chr5:68977250-69470589	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv881779	chr5:68991341-69753111	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv881781	chr5:68995989-69420111	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv881785	chr5:69013984-69342745	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv881788	chr5:69063595-69470589	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv881789	chr5:69075763-69507207	Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv881793	chr5:69086881-69342745	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv881794	chr5:69114646-69336461	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv881795	chr5:69114646-69345574	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv881796	chr5:69114646-69535177	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv881797	chr5:69123487-69392845	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv881798	chr5:69123487-69400453	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
20	nsv881799	chr5:69148904-69400453	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
21	nsv881800	chr5:69148904-69405087	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
22	nsv881801	chr5:69148904-69486566	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv881802	chr5:69154987-69400453	Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
24	nsv881803	chr5:69154987-69403982	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
25	nsv598472	chr5:69154987-69475015	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
26	esv1810000	chr5:69164017-69603075	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
27	nsv598473	chr5:69164101-69397252	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
28	esv19631	chr5:69194688-69411939	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
29	nsv881804	chr5:69197321-69440806	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
30	nsv508367	chr5:69203497-69974573	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
31	esv3392165	chr5:69211346-69498644	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
32	esv20207	chr5:69212012-69497694	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
33	nsv881805	chr5:69212209-69392845	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
34	nsv881806	chr5:69212209-69400453	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
35	nsv881807	chr5:69212209-69403982	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
36	nsv881808	chr5:69212209-69420111	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
37	nsv881809	chr5:69212209-69507207	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
38	nsv881810	chr5:69212209-69677532	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
39	esv1850935	chr5:69212708-69464258	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
40	nsv881811	chr5:69215959-69392845	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
41	nsv881812	chr5:69215959-69400453	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
42	nsv881813	chr5:69215959-69470589	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
43	nsv598475	chr5:69215959-69507207	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
44	esv1826620	chr5:69218852-69477962	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
45	esv1850154	chr5:69218852-69490865	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
46	nsv915651	chr5:69220692-69463228	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
47	nsv881815	chr5:69227312-69392845	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
48	nsv881816	chr5:69227312-69400453	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
49	nsv881817	chr5:69227312-69403982	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
50	nsv881818	chr5:69227312-69405087	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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