Variant report

Variant	rs66796078
Chromosome Location	chr5:99385089-99385090
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr5:99384865-99385400	GM12878	blood:	n/a	n/a
2	SP1	chr5:99385021-99385165	HepG2	liver:	n/a	n/a
3	SP1	chr5:99384882-99385384	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:99385040-99385354	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXP2	chr5:99385023-99385306	PFSK-1	brain:	n/a	n/a
6	POU2F2	chr5:99384986-99385349	GM12878	blood:	n/a	n/a
7	SP1	chr5:99384961-99385382	GM12878	blood:	n/a	n/a
8	SPI1	chr5:99384962-99385293	GM12878	blood:	n/a	n/a
9	MXI1	chr5:99384888-99385259	K562	blood:	n/a	n/a
10	TCF12	chr5:99384953-99385298	GM12878	blood:	n/a	n/a
11	HEY1	chr5:99384975-99385304	K562	blood:	n/a	n/a
12	PAX5	chr5:99384991-99385391	GM12878	blood:	n/a	n/a
13	EBF1	chr5:99384998-99385291	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr5:99384938-99385290	HepG2	liver:	n/a	n/a
15	HEY1	chr5:99385001-99385275	HepG2	liver:	n/a	n/a
16	SIX5	chr5:99384957-99385370	K562	blood:	n/a	n/a
17	TCF3	chr5:99385012-99385305	GM12878	blood:	n/a	n/a
18	RXRA	chr5:99384918-99385319	HepG2	liver:	n/a	n/a
19	CTCF	chr5:99384886-99385261	K562	blood:	n/a	n/a
20	PBX3	chr5:99385050-99385344	GM12878	blood:	n/a	n/a
21	CHD2	chr5:99384887-99385260	K562	blood:	n/a	n/a
22	SIX5	chr5:99384964-99385410	GM12878	blood:	n/a	n/a
23	FOSL2	chr5:99384908-99385318	HepG2	liver:	n/a	n/a
24	PAX5	chr5:99384991-99385399	GM12878	blood:	n/a	n/a
25	PAX5	chr5:99384996-99385290	GM12878	blood:	n/a	n/a
26	ZBTB33	chr5:99385002-99385384	GM12878	blood:	n/a	n/a
27	TCF12	chr5:99384920-99385377	HepG2	liver:	n/a	n/a
28	TBP	chr5:99384886-99385261	K562	blood:	n/a	n/a
29	EBF1	chr5:99384980-99385299	GM12878	blood:	n/a	n/a
30	HCFC1	chr5:99385059-99385261	K562	blood:	n/a	n/a
31	CUX1	chr5:99384886-99385260	K562	blood:	n/a	n/a
32	CEBPD	chr5:99384976-99385398	K562	blood:	n/a	n/a
33	TCF3	chr5:99384997-99385178	GM12878	blood:	n/a	n/a
34	BHLHE40	chr5:99384917-99385380	HepG2	liver:	n/a	n/a
35	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
36	SP1	chr5:99384860-99385386	GM12878	blood:	n/a	n/a
37	USF1	chr5:99385001-99385221	HepG2	liver:	n/a	n/a
38	TAF1	chr5:99385026-99385420	Hela-S3	cervix:	n/a	n/a
39	SPI1	chr5:99385008-99385221	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:99384931-99385370	Hela-S3	cervix:	n/a	n/a
41	NR2F2	chr5:99384180-99385503	K562	blood:	n/a	n/a
42	PAX5	chr5:99384186-99385410	GM12878	blood:	n/a	n/a
43	TCF12	chr5:99384959-99385292	GM12878	blood:	n/a	n/a
44	PBX3	chr5:99385006-99385223	GM12878	blood:	n/a	n/a
45	TBL1XR1	chr5:99384887-99385261	K562	blood:	n/a	n/a
46	ZNF143	chr5:99384887-99385261	K562	blood:	n/a	n/a
47	BACH1	chr5:99384887-99385260	K562	blood:	n/a	n/a
48	EP300	chr5:99384960-99385438	GM12878	blood:	n/a	n/a
49	FOSL2	chr5:99384202-99385402	HepG2	liver:	n/a	chr5:99384446-99384455
50	IRF4	chr5:99384889-99385437	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264839	TF binding region
MTND5P10	TF binding region
ENSG00000270232	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11241384	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11948786	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1477673	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17164397	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17707689	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17764255	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2045845	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2045846	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2045847	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2045848	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2126667	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2370424	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2887754	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57824518	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6880090	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7706973	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7730463	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7735213	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7735740	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3509855	chr5:98919847-99394935	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3509856	chr5:98919847-99394935	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1031945	chr5:98976665-99503539	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521463	chr5:99074392-99539933	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758006	chr5:99207674-99846255	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv882438	chr5:99279767-99600237	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1805126	chr5:99298081-99476578	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv830424	chr5:99298081-99476578	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv428118	chr5:99298081-99476578	Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1792320	chr5:99298081-99509439	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv432782	chr5:99304875-99446176	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv432783	chr5:99304875-99536420	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv882439	chr5:99306483-99387066	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv432784	chr5:99317040-99446176	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1031008	chr5:99317040-99448356	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1025183	chr5:99322292-99395055	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1023043	chr5:99322292-99446176	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1031609	chr5:99322292-99446756	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1026906	chr5:99322292-99448356	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv33013	chr5:99322707-99445769	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv599159	chr5:99324810-99385107	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv599160	chr5:99324810-99390727	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv599161	chr5:99325303-99420600	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv517073	chr5:99331484-99387360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv599162	chr5:99331484-99387360	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv882440	chr5:99332696-99468680	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv882441	chr5:99362737-99465252	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv882442	chr5:99362737-99478428	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv10729	chr5:99380706-99392925	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv12087	chr5:99380988-99391856	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv823155	chr5:99380988-99391856	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
33	nsv968968	chr5:99381150-99390564	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
34	nsv823156	chr5:99381712-99390413	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv819839	chr5:99381741-99390460	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
36	esv1794679	chr5:99381759-99390601	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
37	esv1851209	chr5:99381759-99390601	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
38	nsv823157	chr5:99382369-99390413	Inactive region	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
39	esv34624	chr5:99383469-99664527	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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