Variant report

Variant	rs199818797
Chromosome Location	chr5:70392972-70392973
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	chr5:70392715-70393191	GM12891	blood:	n/a	n/a
2	POLR2A	chr5:70392706-70394102	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:70392672-70394088	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:70392682-70393647	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:70392724-70393074	GM12891	blood:	n/a	n/a
6	TEAD4	chr5:70392952-70393776	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:70392869-70393986	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:70392591-70394679	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:70392839-70393608	GM12892	blood:	n/a	n/a
10	TAF1	chr5:70392897-70393888	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr5:70392869-70393744	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000230847	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805631	chr5:69705362-70657888	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv533404	chr5:69732162-70587019	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv918008	chr5:69732191-70587018	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067570	chr5:69732192-70587018	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv491621	chr5:69732192-70587018	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv529287	chr5:69732192-70716662	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv881986	chr5:69830067-70649421	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv21405	chr5:69830214-70497993	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv491966	chr5:69843629-70587018	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv497817	chr5:69843651-70587019	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv881997	chr5:69886621-70498086	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv882000	chr5:69924203-70606506	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv882004	chr5:69945222-70606506	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv882005	chr5:69986376-70471631	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv882008	chr5:70029358-70498086	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv882022	chr5:70072721-70415804	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv882023	chr5:70072721-70485196	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv882024	chr5:70072721-70498086	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv882029	chr5:70081434-70471631	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	esv15058	chr5:70087253-70497993	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	esv1832784	chr5:70093901-70491255	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv882033	chr5:70096904-70498086	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv882034	chr5:70096904-70606506	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
24	esv1827019	chr5:70106816-70471891	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
25	nsv882040	chr5:70109362-70488078	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
26	nsv882041	chr5:70109362-70498086	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
27	nsv882056	chr5:70147682-70398523	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
28	nsv882057	chr5:70147682-70415804	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
29	nsv882058	chr5:70147682-70471631	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
30	nsv882059	chr5:70147682-70485196	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
31	nsv882063	chr5:70157837-70471631	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
32	esv10489	chr5:70161198-70425672	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
33	nsv882071	chr5:70166920-70398523	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
34	nsv882072	chr5:70166920-70450158	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
35	nsv882073	chr5:70166920-70471631	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
36	nsv882074	chr5:70166920-70488078	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
37	esv1808212	chr5:70174296-70424094	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
38	nsv882098	chr5:70196970-70398523	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
39	nsv882099	chr5:70196970-70464426	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
40	nsv882100	chr5:70196970-70471631	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
41	nsv882101	chr5:70196970-70498086	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
42	nsv598547	chr5:70210158-70407894	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
43	nsv882107	chr5:70226116-70398523	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
44	nsv882108	chr5:70226116-70407894	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
45	nsv882109	chr5:70226116-70415804	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
46	nsv882110	chr5:70226116-70462636	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
47	nsv882111	chr5:70226116-70471631	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
48	esv1805051	chr5:70226835-70424094	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
49	nsv598557	chr5:70238324-70462636	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
50	nsv882113	chr5:70241823-70398523	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70392600-70395000	Weak transcription	Lung	lung
2	chr5:70392600-70395800	Weak transcription	Fetal Muscle Trunk	muscle

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