Variant report

Variant	rs534508224
Chromosome Location	chr5:179075765-179075766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:179075469-179075831	K562	blood:	n/a	chr5:179075657-179075668 chr5:179075657-179075667 chr5:179075658-179075667 chr5:179075657-179075668 chr5:179075656-179075669 chr5:179075656-179075671
2	POLR2A	chr5:179075354-179076708	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179075765-179075815	BE2_C	brain:	n/a
2	chr5:179075765-179075815	SKMC	muscle:	n/a
3	chr5:179075765-179075815	SK-N-SH_RA	brain:	n/a
4	chr5:179075765-179075815	HCT-116	colon:	n/a
5	chr5:179075765-179075815	IMR90	lung:	fetal
6	chr5:179075765-179075815	NHBE	bronchial:	n/a
7	chr5:179075765-179075815	HRE	kidney:	n/a
8	chr5:179075765-179075815	AG04449	skin:	fetal
9	chr5:179075765-179075815	HEK293	kidney:	embryo
10	chr5:179075765-179075815	ovcar-3	ovarian:	n/a
11	chr5:179075765-179075815	LNCaP	prostate:	n/a
12	chr5:179075765-179075815	NHDF-neo	bronchial:	n/a
13	chr5:179075765-179075815	GM12891	blood:	n/a
14	chr5:179075765-179075815	MCF-7	breast:	n/a
15	chr5:179075765-179075815	HRCEpiC	kidney:	n/a
16	chr5:179075765-179075815	H1-hESC	embryonic stem cell:	embryo
17	chr5:179075765-179075815	T-47D	breast:	n/a
18	chr5:179075765-179075815	A549	lung:	n/a
19	chr5:179075765-179075815	GM12892	blood:	n/a
20	chr5:179075765-179075815	U87	brain:	n/a
21	chr5:179075765-179075815	PANC-1	pancreas:	n/a
22	chr5:179075765-179075815	HMEC	breast:	n/a
23	chr5:179075765-179075815	Caco-2	colon:	n/a
24	chr5:179075765-179075815	HUVEC	blood vessel:	n/a
25	chr5:179075765-179075815	PFSK-1	brain:	n/a
26	chr5:179075765-179075815	ProgFib	skin:	n/a
27	chr5:179075765-179075815	HL-60	blood:	n/a
28	chr5:179075765-179075815	AG09309	skin:	n/a
29	chr5:179075765-179075815	GM12878	blood:	n/a
30	chr5:179075765-179075815	AoSMC	blood vessel:	n/a
31	chr5:179075765-179075815	HEEpiC	esophagus:	n/a
32	chr5:179075765-179075815	GM19239	blood:	n/a
33	chr5:179075765-179075815	BJ	skin:	n/a
34	chr5:179075765-179075815	NH-A	brain:	n/a
35	chr5:179075765-179075815	SK-N-SH	brain:	n/a
36	chr5:179075765-179075815	Hepatocyte	liver:	n/a
37	chr5:179075765-179075815	CMK	blood:	n/a
38	chr5:179075765-179075815	K562	blood:	n/a
39	chr5:179075765-179075815	HCF	heart:	n/a
40	chr5:179075765-179075815	GM06990	blood:	n/a
41	chr5:179075765-179075815	NB4	blood:	n/a
42	chr5:179075765-179075815	MCF10A-Er-Src	breast:	n/a
43	chr5:179075765-179075815	ECC-1	luminal epithelium:	n/a
44	chr5:179075765-179075815	AG10803	skin:	n/a
45	chr5:179075765-179075815	NT2-D1	testis:	n/a
46	chr5:179075765-179075815	HIPEpiC	eye:	n/a
47	chr5:179075765-179075815	RPTEC	kidney:	n/a
48	chr5:179075765-179075815	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:179075765-179075815	HAEpiC	amniotic membrane:	n/a
50	chr5:179075765-179075815	HepG2	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179048380..179051829-chr5:179074872..179077735,3	K562	blood:
2	chr5:178976725..178979261-chr5:179073948..179076733,2	MCF-7	breast:
3	chr5:179049010..179052109-chr5:179075423..179078137,6	MCF-7	breast:

No data

Variant related genes	Relation type
C5orf60	TF binding region
ENSG00000228259	TF binding region
C5orf60	CpG island
ENSG00000228259	CpG island
ENSG00000169045	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv969027	chr5:179061852-179079829	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1017006	chr5:179064433-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv33798	chr5:179075713-179078250	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179070800-179078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179075400-179075800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:179075400-179076800	Enhancers	Fetal Muscle Trunk	muscle

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