Variant report

Variant	rs17576397
Chromosome Location	chr13:69559059-69559060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr13:69558784-69559197	K562	blood:	n/a	chr13:69559076-69559088 chr13:69558955-69558965 chr13:69559034-69559044
2	POLR2A	chr13:69558868-69559241	K562	blood:	n/a	n/a
3	UBTF	chr13:69558973-69559180	K562	blood:	n/a	n/a
4	EGR1	chr13:69558908-69559079	K562	blood:	n/a	chr13:69558991-69559004 chr13:69558994-69559004
5	JUND	chr13:69559054-69559254	K562	blood:	n/a	n/a
6	HEY1	chr13:69559012-69559233	K562	blood:	n/a	n/a
7	TBP	chr13:69558963-69559192	K562	blood:	n/a	n/a
8	RCOR1	chr13:69558944-69559255	K562	blood:	n/a	n/a
9	MAX	chr13:69558792-69559082	K562	blood:	n/a	chr13:69558994-69559004
10	YY1	chr13:69559022-69559288	K562	blood:	n/a	n/a
11	MAZ	chr13:69558904-69559230	K562	blood:	n/a	chr13:69558994-69559004
12	E2F6	chr13:69558778-69559314	K562	blood:	n/a	chr13:69559076-69559088 chr13:69558955-69558965 chr13:69559034-69559044
13	CCNT2	chr13:69558900-69559144	K562	blood:	n/a	n/a
14	MYC	chr13:69558801-69559157	K562	blood:	n/a	chr13:69558994-69559004
15	MYC	chr13:69558808-69559115	K562	blood:	n/a	chr13:69558994-69559004
16	MAX	chr13:69558713-69559216	K562	blood:	n/a	chr13:69558994-69559004

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:69559039-69559089	HPAEpiC	pulmonary alveolar:	n/a
2	chr13:69559039-69559089	HCPEpiC	choroid plexus:	n/a
3	chr13:69559039-69559089	MCF10A-Er-Src	breast:	n/a
4	chr13:69559039-69559089	NHDF-neo	bronchial:	n/a
5	chr13:69559039-69559089	A549	lung:	n/a
6	chr13:69559039-69559089	AG10803	skin:	n/a
7	chr13:69559039-69559089	SK-N-SH_RA	brain:	n/a
8	chr13:69559039-69559089	HEK293	kidney:	embryo
9	chr13:69559039-69559089	U87	brain:	n/a
10	chr13:69559039-69559089	ProgFib	skin:	n/a
11	chr13:69559039-69559089	BE2_C	brain:	n/a
12	chr13:69559039-69559089	HRCEpiC	kidney:	n/a
13	chr13:69559039-69559089	HepG2	liver:	n/a
14	chr13:69559039-69559089	Hepatocyte	liver:	n/a
15	chr13:69559039-69559089	MCF-7	breast:	n/a
16	chr13:69559039-69559089	GM19239	blood:	n/a
17	chr13:69559039-69559089	K562	blood:	n/a
18	chr13:69559039-69559089	LNCaP	prostate:	n/a
19	chr13:69559039-69559089	SK-N-SH	brain:	n/a
20	chr13:69559039-69559089	GM06990	blood:	n/a
21	chr13:69559039-69559089	SK-N-MC	brain:	n/a
22	chr13:69559039-69559089	HUVEC	blood vessel:	n/a
23	chr13:69559039-69559089	NB4	blood:	n/a
24	chr13:69559039-69559089	HRPEpiC	eye:	n/a
25	chr13:69559039-69559089	HAEpiC	amniotic membrane:	n/a
26	chr13:69559039-69559089	Hela-S3	cervix:	n/a
27	chr13:69559039-69559089	CMK	blood:	n/a
28	chr13:69559039-69559089	NHBE	bronchial:	n/a
29	chr13:69559039-69559089	H1-hESC	embryonic stem cell:	embryo
30	chr13:69559039-69559089	GM12878	blood:	n/a
31	chr13:69559039-69559089	HCT-116	colon:	n/a
32	chr13:69559039-69559089	HCM	heart:	n/a
33	chr13:69559039-69559089	Caco-2	colon:	n/a
34	chr13:69559039-69559089	ECC-1	luminal epithelium:	n/a
35	chr13:69559039-69559089	AG09309	skin:	n/a
36	chr13:69559039-69559089	HNPCEpiC	eye:	n/a
37	chr13:69559039-69559089	Jurkat	blood:	n/a
38	chr13:69559039-69559089	BJ	skin:	n/a
39	chr13:69559039-69559089	GM12891	blood:	n/a
40	chr13:69559039-69559089	HIPEpiC	eye:	n/a
41	chr13:69559039-69559089	HEEpiC	esophagus:	n/a
42	chr13:69559039-69559089	NH-A	brain:	n/a
43	chr13:69559039-69559089	SKMC	muscle:	n/a
44	chr13:69559039-69559089	AG04449	skin:	fetal
45	chr13:69559039-69559089	SAEC	small airway:	n/a
46	chr13:69559039-69559089	IMR90	lung:	fetal
47	chr13:69559039-69559089	RPTEC	kidney:	n/a
48	chr13:69559039-69559089	PANC-1	pancreas:	n/a
49	chr13:69559039-69559089	HRE	kidney:	n/a
50	chr13:69559039-69559089	T-47D	breast:	n/a

No data

Variant related genes	Relation type
ZDHHC20P4	TF binding region
ZDHHC20P4	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12184630	0.84[ASN][1000 genomes]
rs12184831	0.84[ASN][1000 genomes]
rs1954143	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61950983	0.81[ASN][1000 genomes]
rs61952199	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61952200	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6420334	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs6420335	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6562550	0.80[CEU][hapmap]
rs7991650	0.87[ASN][1000 genomes]
rs9541670	1.00[CHB][hapmap]
rs9541673	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9592587	0.81[ASN][1000 genomes]
rs9592588	0.81[ASN][1000 genomes]
rs9592593	0.84[ASN][1000 genomes]
rs9592595	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9592596	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9599367	0.84[ASN][1000 genomes]
rs9599368	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9599369	0.84[ASN][1000 genomes]
rs9599373	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9599374	0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049303	chr13:69238676-69923558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1038918	chr13:69251052-69919763	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541829	chr13:69251052-69919763	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv900453	chr13:69449431-69757982	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900454	chr13:69484933-69560429	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv900455	chr13:69484933-69579427	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv900456	chr13:69484933-69586193	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv900457	chr13:69484933-69593473	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv900458	chr13:69484933-69615359	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv900459	chr13:69484933-69741897	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1038347	chr13:69494334-69745622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv471147	chr13:69500672-69559370	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1044793	chr13:69506707-69590593	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv455959	chr13:69512812-69583647	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv562200	chr13:69512812-69583647	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv562201	chr13:69516214-69559370	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv900460	chr13:69520062-69674812	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv900461	chr13:69533469-69640879	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv455960	chr13:69539182-69590677	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv562202	chr13:69539182-69590677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv900462	chr13:69545435-69598479	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv2829986	chr13:69546717-69775097	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr13:69558000-69570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:69559000-69559400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:69559000-69559400	Flanking Active TSS	Placenta	Placenta
4	chr13:69559000-69559400	Active TSS	K562	blood

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