Variant report

Variant	rs55812823
Chromosome Location	chr15:55791867-55791868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr15:55791728-55791876	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:55791857-55792419	K562	blood:	n/a	n/a
3	POLR2A	chr15:55791134-55791973	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:55791821-55791871	PFSK-1	brain:	n/a
2	chr15:55791821-55791871	GM06990	blood:	n/a
3	chr15:55791821-55791871	HCF	heart:	n/a
4	chr15:55791821-55791871	Caco-2	colon:	n/a
5	chr15:55791821-55791871	AG04449	skin:	fetal
6	chr15:55791821-55791871	NHDF-neo	bronchial:	n/a
7	chr15:55791821-55791871	MCF-7	breast:	n/a
8	chr15:55791821-55791871	AG09309	skin:	n/a
9	chr15:55791821-55791871	U87	brain:	n/a
10	chr15:55791821-55791871	T-47D	breast:	n/a
11	chr15:55791821-55791871	PrEC	prostate:	n/a
12	chr15:55791821-55791871	HNPCEpiC	eye:	n/a
13	chr15:55791821-55791871	SK-N-SH	brain:	n/a
14	chr15:55791821-55791871	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:55791821-55791871	ECC-1	luminal epithelium:	n/a
16	chr15:55791821-55791871	Jurkat	blood:	n/a
17	chr15:55791821-55791871	ovcar-3	ovarian:	n/a
18	chr15:55791821-55791871	NH-A	brain:	n/a
19	chr15:55791821-55791871	GM12892	blood:	n/a
20	chr15:55791821-55791871	PANC-1	pancreas:	n/a
21	chr15:55791821-55791871	HepG2	liver:	n/a
22	chr15:55791821-55791871	HRE	kidney:	n/a
23	chr15:55791821-55791871	BE2_C	brain:	n/a
24	chr15:55791821-55791871	K562	blood:	n/a
25	chr15:55791821-55791871	AoSMC	blood vessel:	n/a
26	chr15:55791821-55791871	MCF10A-Er-Src	breast:	n/a
27	chr15:55791821-55791871	IMR90	lung:	fetal
28	chr15:55791821-55791871	ProgFib	skin:	n/a
29	chr15:55791821-55791871	NB4	blood:	n/a
30	chr15:55791821-55791871	BJ	skin:	n/a
31	chr15:55791821-55791871	H1-hESC	embryonic stem cell:	embryo
32	chr15:55791821-55791871	SAEC	small airway:	n/a
33	chr15:55791821-55791871	AG10803	skin:	n/a
34	chr15:55791821-55791871	HCM	heart:	n/a
35	chr15:55791821-55791871	SKMC	muscle:	n/a
36	chr15:55791821-55791871	SK-N-SH_RA	brain:	n/a
37	chr15:55791821-55791871	HEEpiC	esophagus:	n/a
38	chr15:55791821-55791871	HCT-116	colon:	n/a
39	chr15:55791821-55791871	GM19239	blood:	n/a
40	chr15:55791821-55791871	RPTEC	kidney:	n/a
41	chr15:55791821-55791871	HAEpiC	amniotic membrane:	n/a
42	chr15:55791821-55791871	GM12891	blood:	n/a
43	chr15:55791821-55791871	NT2-D1	testis:	n/a
44	chr15:55791821-55791871	AG04450	lung:	fetal
45	chr15:55791821-55791871	GM12878	blood:	n/a
46	chr15:55791821-55791871	A549	lung:	n/a
47	chr15:55791821-55791871	LNCaP	prostate:	n/a
48	chr15:55791821-55791871	HCPEpiC	choroid plexus:	n/a
49	chr15:55791821-55791871	SK-N-MC	brain:	n/a
50	chr15:55791821-55791871	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
DYX1C1-CCPG1	TF binding region
DYX1C1	TF binding region
DYX1C1-CCPG1	CpG island
DYX1C1	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12594705	0.86[ASN][1000 genomes]
rs12595149	0.96[ASN][1000 genomes]
rs12595167	0.90[ASN][1000 genomes]
rs16976343	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3743204	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4264341	0.89[ASN][1000 genomes]
rs7169784	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8040756	0.96[ASN][1000 genomes]
rs8043380	1.00[ASN][1000 genomes]
rs9672913	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised 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
13	nsv833016	chr15:55749169-55897906	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv817693	chr15:55788832-55809660	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3348102	chr15:55791709-55831745	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55812823	CCPG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55791000-55792000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr15:55791000-55792000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:55791000-55800200	Weak transcription	Psoas Muscle	Psoas
4	chr15:55791200-55792000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:55791400-55792600	Enhancers	Hela-S3	cervix
6	chr15:55791800-55792000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:55791800-55792200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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