Variant report

Variant	rs560285422
Chromosome Location	chr13:52810393-52810394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:52810380-52810692	Spleen_OC	spleen:	n/a	n/a
2	TEAD4	chr13:52810314-52810661	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:52810036-52810613	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr13:52810331-52810657	GM19238	blood:	n/a	n/a
5	POLR2A	chr13:52810162-52810424	MCF-7	breast:	n/a	n/a
6	CTCF	chr13:52810366-52810667	NHEK	skin:	n/a	n/a
7	CTCF	chr13:52810366-52810672	MCF-7	breast:	n/a	n/a
8	CTCF	chr13:52810287-52810678	Gliobla	brain:	n/a	n/a
9	BATF	chr13:52810391-52810616	GM12878	blood:	n/a	n/a
10	TAF1	chr13:52810093-52810623	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr13:52810139-52810598	H1-hESC	embryonic stem cell:	n/a	n/a
12	POU2F2	chr13:52810281-52810640	GM12878	blood:	n/a	n/a
13	POLR2A	chr13:52809901-52810665	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr13:52810360-52810714	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr13:52810245-52810705	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr13:52810357-52810718	K562	blood:	n/a	n/a
17	JUND	chr13:52810390-52810640	HepG2	liver:	n/a	n/a
18	CTCF	chr13:52810321-52810664	Fibrobl	skin:	n/a	n/a
19	RAD21	chr13:52810204-52810879	SK-N-SH	brain:	n/a	n/a
20	ZNF143	chr13:52810358-52810720	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:52810012-52810520	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOXA1	chr13:52810269-52810740	HepG2	liver:	n/a	n/a
23	CTCF	chr13:52810362-52810649	GM12892	blood:	n/a	n/a
24	POLR2A	chr13:52810384-52810445	K562	blood:	n/a	n/a
25	CTCF	chr13:52810338-52810730	A549	lung:	n/a	n/a
26	CTCF	chr13:52810287-52810665	ProgFib	skin:	n/a	n/a
27	PAX5	chr13:52810393-52810598	GM12878	blood:	n/a	n/a
28	CTCF	chr13:52810327-52810601	K562	blood:	n/a	n/a
29	CTCF	chr13:52810157-52810664	A549	lung:	n/a	n/a
30	MYC	chr13:52810290-52810455	MCF-7	breast:	n/a	n/a
31	PAX5	chr13:52810307-52810650	GM12878	blood:	n/a	n/a
32	FOXP2	chr13:52810246-52810678	SK-N-MC	brain:	n/a	n/a
33	RXRA	chr13:52810361-52810681	GM12878	blood:	n/a	n/a
34	RAD21	chr13:52810346-52810727	IMR90	lung:	n/a	n/a
35	CTCF	chr13:52810365-52810684	Medullo	brain:	n/a	n/a
36	TAF1	chr13:52810184-52810596	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr13:52810205-52810946	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr13:52810354-52810722	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr13:52810171-52810602	SK-N-MC	brain:	n/a	n/a
40	FOXA2	chr13:52810302-52810719	A549	lung:	n/a	n/a
41	RAD21	chr13:52810355-52810715	HepG2	liver:	n/a	n/a
42	CTCF	chr13:52810383-52810642	K562	blood:	n/a	n/a
43	CTCF	chr13:52810350-52810630	GM12891	blood:	n/a	n/a
44	RAD21	chr13:52810355-52810717	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr13:52810242-52810681	A549	lung:	n/a	n/a
46	CTCF	chr13:52810366-52810654	GM19240	blood:	n/a	n/a
47	CTCF	chr13:52810349-52810733	GM12878	blood:	n/a	n/a
48	POLR2A	chr13:52810244-52810569	H1-hESC	embryonic stem cell:	n/a	n/a
49	RXRA	chr13:52810360-52810583	HepG2	liver:	n/a	n/a
50	CTCF	chr13:52810355-52810731	IMR90	lung:	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52810000-52810400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:52810000-52810400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr13:52810000-52810400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr13:52810000-52810400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:52810000-52810400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:52810000-52810400	Active TSS	Right Atrium	heart
7	chr13:52810200-52810400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr13:52810200-52810600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr13:52810200-52810600	Active TSS	Brain Anterior Caudate	brain

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