Variant report

Variant	rs530948940
Chromosome Location	chr5:68846454-68846455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	esv1818827	chr5:68812530-68849594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1832055	chr5:68812530-68849594	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1830977	chr5:68815501-68850642	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv514309	chr5:68821588-68854548	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	esv1798082	chr5:68828122-68851608	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv1818751	chr5:68828122-68851608	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	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
16	esv1792732	chr5:68828322-68849594	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1797589	chr5:68828322-68849594	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	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
19	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
20	esv1821551	chr5:68829261-68850642	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv1799668	chr5:68829261-68851895	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	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
23	esv21364	chr5:68829809-68850737	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv1803939	chr5:68830024-68849794	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
25	esv1817200	chr5:68830024-68849794	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
26	esv1828566	chr5:68830024-68849794	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
27	esv1831251	chr5:68830024-68849794	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
28	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
29	esv1841815	chr5:68830068-68850595	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
30	esv1846737	chr5:68830068-68850595	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
31	nsv598427	chr5:68830068-68851541	Weak transcription Enhancers	TF binding region	4 gene(s)	inside rSNPs	diseases
32	nsv598428	chr5:68830068-68887862	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
33	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
34	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
35	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
36	esv1822422	chr5:68830621-68861163	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
37	esv1818472	chr5:68830621-68867259	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
38	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
39	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
40	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
41	nsv598430	chr5:68832529-68856885	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
42	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
43	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
44	esv1821083	chr5:68832957-68849594	Weak transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
45	esv1825777	chr5:68832957-68849594	Enhancers Weak transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
46	esv1833328	chr5:68832957-68851737	Weak transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
47	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
48	nsv598435	chr5:68834042-68847399	Weak transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
49	nsv598436	chr5:68834042-68849631	Weak transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
50	nsv598437	chr5:68834042-68850595	Enhancers Weak transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:68841000-68855200	Weak transcription	HepG2	liver
4	chr5:68844400-68855400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:68845800-68855600	Weak transcription	H9 Cell Line	embryonic stem cell

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