Variant report

Variant	rs529666443
Chromosome Location	chr5:68898792-68898793
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	POLR2A	chr5:68898789-68899106	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248477	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv1810743	chr5:68822324-68923795	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv916098	chr5:68824208-68902841	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1805246	chr5:68825844-68923795	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv598425	chr5:68827069-68904678	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv881770	chr5:68827069-68915051	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv1808992	chr5:68827700-69181892	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv881771	chr5:68828296-68904678	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv968189	chr5:68829015-68919282	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	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
11	esv17253	chr5:68829448-68927484	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	esv11562	chr5:68830039-69095305	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv598429	chr5:68830068-68898869	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	esv1805935	chr5:68830068-68906721	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	esv1813265	chr5:68830068-68911161	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv1806970	chr5:68830621-69172564	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	esv3496805	chr5:68831346-68930844	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
18	esv3496806	chr5:68831346-68930844	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv598431	chr5:68832529-68900856	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv598432	chr5:68832529-68906721	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
21	esv1814966	chr5:68832957-68915974	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
22	nsv598441	chr5:68834042-68900856	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
23	nsv598442	chr5:68834042-68909623	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
24	nsv598445	chr5:68835166-68918043	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
25	nsv598446	chr5:68835256-68904678	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
26	esv1805684	chr5:68835256-68909623	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
27	esv1815067	chr5:68835256-68909623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
28	nsv598447	chr5:68835256-68945227	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
29	nsv598448	chr5:68835256-69269712	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
30	esv1810881	chr5:68842063-68918043	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
31	esv1810942	chr5:68842063-68918043	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
32	esv1804538	chr5:68843820-69174160	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
33	esv1807344	chr5:68849631-68911161	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
34	esv1009388	chr5:68850497-68913437	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
35	nsv598456	chr5:68850595-68906721	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
36	nsv471498	chr5:68851245-69320933	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
37	esv1807825	chr5:68856885-68913840	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
38	nsv881772	chr5:68857837-69061001	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
39	nsv598458	chr5:68861530-68898869	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
40	esv1804910	chr5:68867282-69118123	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
41	esv1813695	chr5:68867282-69118123	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
42	esv3584530	chr5:68867294-69118135	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
43	nsv598461	chr5:68878051-68911161	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	TF binding region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
44	nsv598463	chr5:68887862-68911161	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
45	esv3470934	chr5:68897696-68903594	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
46	esv3470935	chr5:68897696-68903594	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68896200-68901400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:68897800-68899000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:68898200-68902000	Weak transcription	Primary B cells from peripheral blood	blood

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