Variant report

Variant	rs75474806
Chromosome Location	chr5:93906294-93906295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93906294-93906344	AG09309	skin:	n/a
2	chr5:93906294-93906344	H1-hESC	embryonic stem cell:	embryo
3	chr5:93906294-93906344	NB4	blood:	n/a
4	chr5:93906294-93906344	HRCEpiC	kidney:	n/a
5	chr5:93906294-93906344	ProgFib	skin:	n/a
6	chr5:93906294-93906344	HIPEpiC	eye:	n/a
7	chr5:93906294-93906344	RPTEC	kidney:	n/a
8	chr5:93906294-93906344	HAEpiC	amniotic membrane:	n/a
9	chr5:93906294-93906344	HRE	kidney:	n/a
10	chr5:93906294-93906344	HepG2	liver:	n/a
11	chr5:93906294-93906344	SKMC	muscle:	n/a
12	chr5:93906294-93906344	AG04449	skin:	fetal
13	chr5:93906294-93906344	HEEpiC	esophagus:	n/a
14	chr5:93906294-93906344	HCT-116	colon:	n/a
15	chr5:93906294-93906344	T-47D	breast:	n/a
16	chr5:93906294-93906344	HRPEpiC	eye:	n/a
17	chr5:93906294-93906344	HL-60	blood:	n/a
18	chr5:93906294-93906344	HMEC	breast:	n/a
19	chr5:93906294-93906344	PANC-1	pancreas:	n/a
20	chr5:93906294-93906344	GM06990	blood:	n/a
21	chr5:93906294-93906344	NHDF-neo	bronchial:	n/a
22	chr5:93906294-93906344	Hela-S3	cervix:	n/a
23	chr5:93906294-93906344	ECC-1	luminal epithelium:	n/a
24	chr5:93906294-93906344	U87	brain:	n/a
25	chr5:93906294-93906344	CMK	blood:	n/a
26	chr5:93906294-93906344	AG10803	skin:	n/a
27	chr5:93906294-93906344	ovcar-3	ovarian:	n/a
28	chr5:93906294-93906344	SAEC	small airway:	n/a
29	chr5:93906294-93906344	MCF10A-Er-Src	breast:	n/a
30	chr5:93906294-93906344	GM12891	blood:	n/a
31	chr5:93906294-93906344	AG09319	gingival:	n/a
32	chr5:93906294-93906344	PFSK-1	brain:	n/a
33	chr5:93906294-93906344	SK-N-MC	brain:	n/a
34	chr5:93906294-93906344	PrEC	prostate:	n/a
35	chr5:93906294-93906344	BE2_C	brain:	n/a
36	chr5:93906294-93906344	GM12892	blood:	n/a
37	chr5:93906294-93906344	A549	lung:	n/a
38	chr5:93906294-93906344	GM19239	blood:	n/a
39	chr5:93906294-93906344	Caco-2	colon:	n/a
40	chr5:93906294-93906344	GM12878	blood:	n/a
41	chr5:93906294-93906344	Jurkat	blood:	n/a
42	chr5:93906294-93906344	HCPEpiC	choroid plexus:	n/a
43	chr5:93906294-93906344	HNPCEpiC	eye:	n/a
44	chr5:93906294-93906344	NT2-D1	testis:	n/a
45	chr5:93906294-93906344	AoSMC	blood vessel:	n/a
46	chr5:93906294-93906344	HEK293	kidney:	embryo
47	chr5:93906294-93906344	HUVEC	blood vessel:	n/a
48	chr5:93906294-93906344	NH-A	brain:	n/a
49	chr5:93906294-93906344	SK-N-SH_RA	brain:	n/a
50	chr5:93906294-93906344	BJ	skin:	n/a

No data

Variant related genes	Relation type
MTND6P3	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv820630	chr5:93902940-93906461	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1793413	chr5:93903140-93906557	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv819118	chr5:93903275-93908543	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv15901	chr5:93903386-93907012	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3346147	chr5:93906020-93906374	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	inside rSNPs	diseases
16	esv3420958	chr5:93906038-93906296	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 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
3	chr5:93905800-93906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr5:93906000-93913200	Weak transcription	Aorta	Aorta

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