Variant report

Variant	rs561529000
Chromosome Location	chr13:52810573-52810574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:52810500-52810650	HCM	heart:	n/a	n/a
2	CTCF	chr13:52810520-52810670	GM12878	blood:	n/a	n/a
3	RAD21	chr13:52810448-52810652	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr13:52810380-52810692	Spleen_OC	spleen:	n/a	n/a
5	TEAD4	chr13:52810314-52810661	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr13:52810520-52810670	HMEC	breast:	n/a	n/a
7	POLR2A	chr13:52810036-52810613	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr13:52810331-52810657	GM19238	blood:	n/a	n/a
9	CTCF	chr13:52810480-52810630	SAEC	small airway:	n/a	n/a
10	CTCF	chr13:52810397-52810672	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr13:52810500-52810650	A549	lung:	n/a	n/a
12	CTCF	chr13:52810500-52810650	HAc	cerebellar:	n/a	n/a
13	CTCF	chr13:52810520-52810670	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr13:52810520-52810670	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr13:52810520-52810670	AG09309	skin:	n/a	n/a
16	CTCF	chr13:52810520-52810670	HPF	lung:	n/a	n/a
17	RAD21	chr13:52810440-52810644	HepG2	liver:	n/a	n/a
18	CTCF	chr13:52810366-52810667	NHEK	skin:	n/a	n/a
19	CTCF	chr13:52810460-52810651	HepG2	liver:	n/a	n/a
20	CTCF	chr13:52810431-52810607	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr13:52810431-52810664	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr13:52810366-52810672	MCF-7	breast:	n/a	n/a
23	SMC3	chr13:52810414-52810718	HepG2	liver:	n/a	n/a
24	CTCF	chr13:52810460-52810610	GM12801	blood:	n/a	n/a
25	RUNX3	chr13:52810454-52810668	GM12878	blood:	n/a	n/a
26	CTCF	chr13:52810287-52810678	Gliobla	brain:	n/a	n/a
27	BATF	chr13:52810391-52810616	GM12878	blood:	n/a	n/a
28	CTCF	chr13:52810520-52810670	AG09319	gingival:	n/a	n/a
29	TAF1	chr13:52810093-52810623	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr13:52810500-52810650	GM12870	blood:	n/a	n/a
31	CTCF	chr13:52810419-52810634	MCF-7	breast:	n/a	n/a
32	RAD21	chr13:52810413-52810696	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr13:52810500-52810650	HRE	kidney:	n/a	n/a
34	CTCF	chr13:52810500-52810650	NHLF	lung:	n/a	n/a
35	CTCF	chr13:52810500-52810650	GM12865	blood:	n/a	n/a
36	POLR2A	chr13:52810139-52810598	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr13:52810428-52810651	SK-N-SH_RA	brain:	n/a	n/a
38	POU2F2	chr13:52810281-52810640	GM12878	blood:	n/a	n/a
39	CTCF	chr13:52810500-52810650	GM12872	blood:	n/a	n/a
40	POLR2A	chr13:52809901-52810665	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr13:52810500-52810650	BE2_C	brain:	n/a	n/a
42	CTCF	chr13:52810520-52810670	HEK293	kidney:	n/a	n/a
43	SMC3	chr13:52810360-52810714	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr13:52810245-52810705	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr13:52810357-52810718	K562	blood:	n/a	n/a
46	JUND	chr13:52810390-52810640	HepG2	liver:	n/a	n/a
47	CTCF	chr13:52810427-52810677	HepG2	liver:	n/a	n/a
48	CTCF	chr13:52810409-52810670	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr13:52810520-52810670	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr13:52810429-52810655	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
TPTE2P2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv819887	chr13:52772113-52926921	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv983588	chr13:52772461-52833538	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	nsv900083	chr13:52783120-52885838	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2453475	chr13:52803686-52895029	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr13:52810200-52810600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr13:52810200-52810600	Active TSS	Brain Anterior Caudate	brain

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