Variant report

Variant	rs74562796
Chromosome Location	chr5:79330305-79330306
allele	G/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	chr5:79330259-79330309	RPTEC	kidney:	n/a
2	chr5:79330259-79330309	HCM	heart:	n/a
3	chr5:79330259-79330309	H1-hESC	embryonic stem cell:	embryo
4	chr5:79330259-79330309	HEEpiC	esophagus:	n/a
5	chr5:79330259-79330309	Caco-2	colon:	n/a
6	chr5:79330259-79330309	MCF-7	breast:	n/a
7	chr5:79330259-79330309	NHBE	bronchial:	n/a
8	chr5:79330259-79330309	HCF	heart:	n/a
9	chr5:79330259-79330309	HMEC	breast:	n/a
10	chr5:79330259-79330309	SK-N-SH_RA	brain:	n/a
11	chr5:79330259-79330309	HIPEpiC	eye:	n/a
12	chr5:79330259-79330309	ovcar-3	ovarian:	n/a
13	chr5:79330259-79330309	GM19239	blood:	n/a
14	chr5:79330259-79330309	BJ	skin:	n/a
15	chr5:79330259-79330309	GM12878	blood:	n/a
16	chr5:79330259-79330309	Jurkat	blood:	n/a
17	chr5:79330259-79330309	HCPEpiC	choroid plexus:	n/a
18	chr5:79330259-79330309	NB4	blood:	n/a
19	chr5:79330259-79330309	CMK	blood:	n/a
20	chr5:79330259-79330309	NT2-D1	testis:	n/a
21	chr5:79330259-79330309	HEK293	kidney:	embryo
22	chr5:79330259-79330309	SKMC	muscle:	n/a
23	chr5:79330259-79330309	Hela-S3	cervix:	n/a
24	chr5:79330259-79330309	K562	blood:	n/a
25	chr5:79330259-79330309	HCT-116	colon:	n/a
26	chr5:79330259-79330309	AG10803	skin:	n/a
27	chr5:79330259-79330309	Hepatocyte	liver:	n/a
28	chr5:79330259-79330309	AG09309	skin:	n/a
29	chr5:79330259-79330309	U87	brain:	n/a
30	chr5:79330259-79330309	ECC-1	luminal epithelium:	n/a
31	chr5:79330259-79330309	HRPEpiC	eye:	n/a
32	chr5:79330259-79330309	HUVEC	blood vessel:	n/a
33	chr5:79330259-79330309	HRE	kidney:	n/a
34	chr5:79330259-79330309	AoSMC	blood vessel:	n/a
35	chr5:79330259-79330309	AG09319	gingival:	n/a
36	chr5:79330259-79330309	SK-N-MC	brain:	n/a
37	chr5:79330259-79330309	NH-A	brain:	n/a
38	chr5:79330259-79330309	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:79330259-79330309	HNPCEpiC	eye:	n/a
40	chr5:79330259-79330309	PANC-1	pancreas:	n/a
41	chr5:79330259-79330309	PFSK-1	brain:	n/a
42	chr5:79330259-79330309	LNCaP	prostate:	n/a
43	chr5:79330259-79330309	ProgFib	skin:	n/a
44	chr5:79330259-79330309	BE2_C	brain:	n/a
45	chr5:79330259-79330309	MCF10A-Er-Src	breast:	n/a
46	chr5:79330259-79330309	NHDF-neo	bronchial:	n/a
47	chr5:79330259-79330309	AG04449	skin:	fetal
48	chr5:79330259-79330309	GM06990	blood:	n/a
49	chr5:79330259-79330309	HAEpiC	amniotic membrane:	n/a
50	chr5:79330259-79330309	IMR90	lung:	fetal

No data

Variant related genes	Relation type
TRMT112P2	CpG island
THBS4	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv598743	chr5:79329538-79335267	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3423458	chr5:79330021-79332569	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3385040	chr5:79330296-79332294	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79330000-79330400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
2	chr5:79330000-79330600	Bivalent Enhancer	Fetal Kidney	kidney
3	chr5:79330200-79330600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr5:79330200-79332200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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