Variant report

Variant	rs28584973
Chromosome Location	chr18:28685844-28685845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:28685807-28685890	A549	lung:	n/a	n/a
2	CTCF	chr18:28685800-28685950	A549	lung:	n/a	n/a
3	CTCF	chr18:28685780-28685930	K562	blood:	n/a	n/a
4	BHLHE40	chr18:28685681-28685956	K562	blood:	n/a	n/a
5	CTCF	chr18:28685711-28686025	K562	blood:	n/a	n/a
6	CTCF	chr18:28685780-28685930	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr18:28685810-28685884	MCF-7	breast:	n/a	n/a
8	CTCF	chr18:28685820-28685970	GM12865	blood:	n/a	n/a
9	CTCF	chr18:28685802-28685917	MCF-7	breast:	n/a	n/a
10	CTCF	chr18:28685784-28685919	K562	blood:	n/a	n/a
11	CTCF	chr18:28685820-28685970	GM06990	blood:	n/a	n/a
12	CTCF	chr18:28685760-28685910	A549	lung:	n/a	n/a
13	CTCF	chr18:28685800-28685901	MCF-7	breast:	n/a	n/a
14	POLR2A	chr18:28685737-28685889	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr18:28685760-28685910	GM06990	blood:	n/a	n/a
16	CTCF	chr18:28685760-28685910	GM12869	blood:	n/a	n/a
17	CTCF	chr18:28685817-28685908	Gliobla	brain:	n/a	n/a
18	CTCF	chr18:28685760-28685910	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:28685799-28685849	GM12891	blood:	n/a
2	chr18:28685799-28685849	Hela-S3	cervix:	n/a
3	chr18:28685799-28685849	NB4	blood:	n/a
4	chr18:28685799-28685849	IMR90	lung:	fetal
5	chr18:28685799-28685849	HCPEpiC	choroid plexus:	n/a
6	chr18:28685799-28685849	AG04450	lung:	fetal
7	chr18:28685799-28685849	HCM	heart:	n/a
8	chr18:28685799-28685849	U87	brain:	n/a
9	chr18:28685799-28685849	K562	blood:	n/a
10	chr18:28685799-28685849	HRPEpiC	eye:	n/a
11	chr18:28685799-28685849	HIPEpiC	eye:	n/a
12	chr18:28685799-28685849	HCF	heart:	n/a
13	chr18:28685799-28685849	SK-N-SH	brain:	n/a
14	chr18:28685799-28685849	NT2-D1	testis:	n/a
15	chr18:28685799-28685849	H1-hESC	embryonic stem cell:	embryo
16	chr18:28685799-28685849	MCF-7	breast:	n/a
17	chr18:28685799-28685849	HPAEpiC	pulmonary alveolar:	n/a
18	chr18:28685799-28685849	HRCEpiC	kidney:	n/a
19	chr18:28685799-28685849	GM12892	blood:	n/a
20	chr18:28685799-28685849	BJ	skin:	n/a
21	chr18:28685799-28685849	NHDF-neo	bronchial:	n/a
22	chr18:28685799-28685849	ProgFib	skin:	n/a
23	chr18:28685799-28685849	ovcar-3	ovarian:	n/a
24	chr18:28685799-28685849	AG09319	gingival:	n/a
25	chr18:28685799-28685849	NH-A	brain:	n/a
26	chr18:28685799-28685849	MCF10A-Er-Src	breast:	n/a
27	chr18:28685799-28685849	SKMC	muscle:	n/a
28	chr18:28685799-28685849	HRE	kidney:	n/a
29	chr18:28685799-28685849	SAEC	small airway:	n/a
30	chr18:28685799-28685849	AG04449	skin:	fetal
31	chr18:28685799-28685849	PANC-1	pancreas:	n/a
32	chr18:28685799-28685849	Jurkat	blood:	n/a
33	chr18:28685799-28685849	HAEpiC	amniotic membrane:	n/a
34	chr18:28685799-28685849	HEEpiC	esophagus:	n/a
35	chr18:28685799-28685849	PFSK-1	brain:	n/a
36	chr18:28685799-28685849	PrEC	prostate:	n/a
37	chr18:28685799-28685849	GM12878	blood:	n/a
38	chr18:28685799-28685849	ECC-1	luminal epithelium:	n/a
39	chr18:28685799-28685849	AoSMC	blood vessel:	n/a
40	chr18:28685799-28685849	HL-60	blood:	n/a
41	chr18:28685799-28685849	HEK293	kidney:	embryo
42	chr18:28685799-28685849	HNPCEpiC	eye:	n/a
43	chr18:28685799-28685849	AG10803	skin:	n/a
44	chr18:28685799-28685849	CMK	blood:	n/a
45	chr18:28685799-28685849	HepG2	liver:	n/a
46	chr18:28685799-28685849	HMEC	breast:	n/a
47	chr18:28685799-28685849	GM19239	blood:	n/a
48	chr18:28685799-28685849	T-47D	breast:	n/a
49	chr18:28685799-28685849	NHBE	bronchial:	n/a
50	chr18:28685799-28685849	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr18:28684191..28685989-chr18:28784874..28786377,2	MCF-7	breast:
2	chr18:28680521..28683192-chr18:28685125..28687786,4	MCF-7	breast:
3	chr18:28680382..28683219-chr18:28685108..28688486,3	MCF-7	breast:

No data

Variant related genes	Relation type
DSC2	TF binding region
DSC2	CpG island
ENSG00000265888	Chromatin interaction
ENSG00000134755	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16948612	1.00[AMR][1000 genomes]
rs2043734	1.00[AMR][1000 genomes]
rs28520988	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7240259	1.00[AMR][1000 genomes]
rs9946137	1.00[AMR][1000 genomes]
rs9957402	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9964449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28682800-28687200	Weak transcription	Stomach Mucosa	stomach
2	chr18:28683200-28688400	Weak transcription	Fetal Intestine Small	intestine
3	chr18:28685000-28688400	Weak transcription	K562	blood

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