Variant report

Variant	rs184094323
Chromosome Location	chr5:93905257-93905258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr5:93904568-93905472	GM12878	blood:	n/a	chr5:93905043-93905059
2	SPI1	chr5:93905015-93905351	K562	blood:	n/a	n/a
3	TAF1	chr5:93904738-93905385	GM12878	blood:	n/a	n/a
4	USF1	chr5:93905013-93905257	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:93904885-93905323	Hela-S3	cervix:	n/a	n/a
6	FOXM1	chr5:93904784-93905522	GM12878	blood:	n/a	n/a
7	REST	chr5:93904996-93905408	GM12878	blood:	n/a	n/a
8	SIX5	chr5:93904920-93905360	K562	blood:	n/a	chr5:93905043-93905059
9	ZBTB33	chr5:93905032-93905268	HepG2	liver:	n/a	n/a
10	BCL11A	chr5:93904917-93905385	GM12878	blood:	n/a	n/a
11	JUND	chr5:93905011-93905287	HepG2	liver:	n/a	n/a
12	PAX5	chr5:93904543-93905744	GM12878	blood:	n/a	n/a
13	JUND	chr5:93905036-93905270	HepG2	liver:	n/a	n/a
14	GATA2	chr5:93904916-93905425	K562	blood:	n/a	n/a
15	POLR2A	chr5:93905018-93905271	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr5:93905010-93905392	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:93905001-93905392	GM12878	blood:	n/a	n/a
18	RXRA	chr5:93904503-93905504	GM12878	blood:	n/a	n/a
19	SP1	chr5:93904824-93905407	GM12878	blood:	n/a	n/a
20	TAF1	chr5:93905018-93905268	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr5:93904908-93905441	K562	blood:	n/a	n/a
22	POU2F2	chr5:93905013-93905278	GM12878	blood:	n/a	n/a
23	ZBTB33	chr5:93904493-93905410	GM12878	blood:	n/a	n/a
24	HEY1	chr5:93904826-93905426	HepG2	liver:	n/a	n/a
25	SIX5	chr5:93904917-93905299	K562	blood:	n/a	chr5:93905043-93905059
26	CTCF	chr5:93904987-93905298	K562	blood:	n/a	n/a
27	TCF12	chr5:93905023-93905315	GM12878	blood:	n/a	n/a
28	FOSL2	chr5:93905004-93905417	HepG2	liver:	n/a	n/a
29	HEY1	chr5:93904923-93905288	K562	blood:	n/a	n/a
30	USF1	chr5:93905031-93905271	HepG2	liver:	n/a	n/a
31	FOXP2	chr5:93905030-93905274	PFSK-1	brain:	n/a	n/a
32	IRF4	chr5:93904804-93905505	GM12878	blood:	n/a	n/a
33	SP1	chr5:93904988-93905411	K562	blood:	n/a	n/a
34	ZBTB33	chr5:93904857-93905446	HepG2	liver:	n/a	n/a
35	ZBTB33	chr5:93904824-93905300	K562	blood:	n/a	n/a
36	TAF1	chr5:93905010-93905281	Hela-S3	cervix:	n/a	n/a
37	FOXP2	chr5:93905027-93905276	SK-N-MC	brain:	n/a	n/a
38	IRF4	chr5:93904810-93905420	GM12878	blood:	n/a	n/a
39	EP300	chr5:93905018-93905322	GM12878	blood:	n/a	n/a
40	PBX3	chr5:93905024-93905338	GM12878	blood:	n/a	n/a
41	REST	chr5:93904874-93905308	HepG2	liver:	n/a	n/a
42	POU2F2	chr5:93904554-93905475	GM12878	blood:	n/a	chr5:93904667-93904678
43	FOXA1	chr5:93904812-93905328	HepG2	liver:	n/a	n/a
44	PBX3	chr5:93905029-93905257	GM12878	blood:	n/a	n/a
45	HEY1	chr5:93905027-93905275	HepG2	liver:	n/a	n/a
46	TCF12	chr5:93904920-93905387	GM12878	blood:	n/a	n/a
47	EBF1	chr5:93905016-93905385	GM12878	blood:	n/a	n/a
48	SP1	chr5:93905040-93905264	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr5:93905026-93905265	HepG2	liver:	n/a	n/a
50	TCF12	chr5:93905010-93905410	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93905257-93905307	HAEpiC	amniotic membrane:	n/a
2	chr5:93905257-93905307	HRCEpiC	kidney:	n/a
3	chr5:93905257-93905307	Caco-2	colon:	n/a
4	chr5:93905257-93905307	AG09309	skin:	n/a
5	chr5:93905257-93905307	ECC-1	luminal epithelium:	n/a
6	chr5:93905257-93905307	HCT-116	colon:	n/a
7	chr5:93905257-93905307	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:93905257-93905307	PANC-1	pancreas:	n/a
9	chr5:93905257-93905307	SAEC	small airway:	n/a
10	chr5:93905257-93905307	RPTEC	kidney:	n/a
11	chr5:93905257-93905307	NHDF-neo	bronchial:	n/a
12	chr5:93905257-93905307	PrEC	prostate:	n/a
13	chr5:93905257-93905307	T-47D	breast:	n/a
14	chr5:93905257-93905307	A549	lung:	n/a
15	chr5:93905257-93905307	U87	brain:	n/a
16	chr5:93905257-93905307	IMR90	lung:	fetal
17	chr5:93905257-93905307	HNPCEpiC	eye:	n/a
18	chr5:93905257-93905307	HIPEpiC	eye:	n/a
19	chr5:93905257-93905307	GM12878	blood:	n/a
20	chr5:93905257-93905307	AG04449	skin:	fetal
21	chr5:93905257-93905307	GM12891	blood:	n/a
22	chr5:93905257-93905307	HMEC	breast:	n/a
23	chr5:93905257-93905307	GM12892	blood:	n/a
24	chr5:93905257-93905307	NHBE	bronchial:	n/a
25	chr5:93905257-93905307	Jurkat	blood:	n/a
26	chr5:93905257-93905307	SKMC	muscle:	n/a
27	chr5:93905257-93905307	HRE	kidney:	n/a
28	chr5:93905257-93905307	NB4	blood:	n/a
29	chr5:93905257-93905307	AG04450	lung:	fetal
30	chr5:93905257-93905307	ovcar-3	ovarian:	n/a
31	chr5:93905257-93905307	HEK293	kidney:	embryo
32	chr5:93905257-93905307	AG09319	gingival:	n/a
33	chr5:93905257-93905307	CMK	blood:	n/a
34	chr5:93905257-93905307	HCF	heart:	n/a
35	chr5:93905257-93905307	MCF10A-Er-Src	breast:	n/a
36	chr5:93905257-93905307	HL-60	blood:	n/a
37	chr5:93905257-93905307	SK-N-SH_RA	brain:	n/a
38	chr5:93905257-93905307	BJ	skin:	n/a
39	chr5:93905257-93905307	H1-hESC	embryonic stem cell:	embryo
40	chr5:93905257-93905307	NT2-D1	testis:	n/a
41	chr5:93905257-93905307	BE2_C	brain:	n/a
42	chr5:93905257-93905307	SK-N-MC	brain:	n/a
43	chr5:93905257-93905307	HCM	heart:	n/a
44	chr5:93905257-93905307	ProgFib	skin:	n/a
45	chr5:93905257-93905307	HRPEpiC	eye:	n/a
46	chr5:93905257-93905307	K562	blood:	n/a
47	chr5:93905257-93905307	LNCaP	prostate:	n/a
48	chr5:93905257-93905307	HEEpiC	esophagus:	n/a
49	chr5:93905257-93905307	AoSMC	blood vessel:	n/a
50	chr5:93905257-93905307	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
MTND6P3	TF binding region
MTND6P3	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1023421	chr5:93679661-93911066	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv964906	chr5:93899345-93909772	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv823135	chr5:93901695-93907012	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv10715	chr5:93901950-93908462	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv823136	chr5:93902940-93906274	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1821190	chr5:93902940-93906281	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv820630	chr5:93902940-93906461	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1819794	chr5:93903140-93906081	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1793413	chr5:93903140-93906557	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv823137	chr5:93903192-93906274	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv819118	chr5:93903275-93908543	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv1802027	chr5:93903286-93906281	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1843678	chr5:93903286-93906281	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv15901	chr5:93903386-93907012	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1814984	chr5:93903575-93906281	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1823371	chr5:93903575-93906281	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv823138	chr5:93903772-93906274	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv823139	chr5:93903980-93906274	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv823140	chr5:93904623-93905770	ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv823141	chr5:93904623-93906274	ZNF genes & repeats Weak transcription	TF binding region CpG island 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	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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