Variant report

Variant	rs17686527
Chromosome Location	chr7:39373468-39373469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:39373334-39373642	H1-hESC	embryonic stem cell:	n/a	chr7:39373432-39373446
2	ZNF143	chr7:39373260-39373653	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr7:39373369-39373637	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr7:39373291-39373631	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr7:39373344-39373580	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr7:39373244-39373668	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr7:39373349-39373618	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr7:39373295-39373687	H1-hESC	embryonic stem cell:	n/a	n/a
9	EBF1	chr7:39373335-39373592	GM12878	blood:	n/a	chr7:39373488-39373499 chr7:39373466-39373477
10	HDAC2	chr7:39373336-39373570	H1-hESC	embryonic stem cell:	n/a	chr7:39373406-39373414

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39373423-39373473	HCF	heart:	n/a
2	chr7:39373423-39373473	PrEC	prostate:	n/a
3	chr7:39373423-39373473	BJ	skin:	n/a
4	chr7:39373423-39373473	HNPCEpiC	eye:	n/a
5	chr7:39373423-39373473	GM06990	blood:	n/a
6	chr7:39373423-39373473	AG04450	lung:	fetal
7	chr7:39373423-39373473	SKMC	muscle:	n/a
8	chr7:39373423-39373473	H1-hESC	embryonic stem cell:	embryo
9	chr7:39373423-39373473	AG04449	skin:	fetal
10	chr7:39373423-39373473	HIPEpiC	eye:	n/a
11	chr7:39373423-39373473	ECC-1	luminal epithelium:	n/a
12	chr7:39373423-39373473	Hepatocyte	liver:	n/a
13	chr7:39373423-39373473	SAEC	small airway:	n/a
14	chr7:39373423-39373473	SK-N-SH	brain:	n/a
15	chr7:39373423-39373473	HRPEpiC	eye:	n/a
16	chr7:39373423-39373473	NB4	blood:	n/a
17	chr7:39373423-39373473	NHDF-neo	bronchial:	n/a
18	chr7:39373423-39373473	NHBE	bronchial:	n/a
19	chr7:39373423-39373473	AoSMC	blood vessel:	n/a
20	chr7:39373423-39373473	Jurkat	blood:	n/a
21	chr7:39373423-39373473	HEK293	kidney:	embryo
22	chr7:39373423-39373473	PFSK-1	brain:	n/a
23	chr7:39373423-39373473	HUVEC	blood vessel:	n/a
24	chr7:39373423-39373473	NH-A	brain:	n/a
25	chr7:39373423-39373473	CMK	blood:	n/a
26	chr7:39373423-39373473	GM12891	blood:	n/a
27	chr7:39373423-39373473	GM12892	blood:	n/a
28	chr7:39373423-39373473	RPTEC	kidney:	n/a
29	chr7:39373423-39373473	ProgFib	skin:	n/a
30	chr7:39373423-39373473	SK-N-SH_RA	brain:	n/a
31	chr7:39373423-39373473	BE2_C	brain:	n/a
32	chr7:39373423-39373473	HCM	heart:	n/a
33	chr7:39373423-39373473	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:39373423-39373473	HepG2	liver:	n/a
35	chr7:39373423-39373473	HCT-116	colon:	n/a
36	chr7:39373423-39373473	IMR90	lung:	fetal
37	chr7:39373423-39373473	ovcar-3	ovarian:	n/a
38	chr7:39373423-39373473	GM12878	blood:	n/a
39	chr7:39373423-39373473	Caco-2	colon:	n/a
40	chr7:39373423-39373473	A549	lung:	n/a
41	chr7:39373423-39373473	HEEpiC	esophagus:	n/a
42	chr7:39373423-39373473	MCF-7	breast:	n/a
43	chr7:39373423-39373473	LNCaP	prostate:	n/a
44	chr7:39373423-39373473	GM19239	blood:	n/a
45	chr7:39373423-39373473	MCF10A-Er-Src	breast:	n/a
46	chr7:39373423-39373473	SK-N-MC	brain:	n/a
47	chr7:39373423-39373473	AG10803	skin:	n/a
48	chr7:39373423-39373473	PANC-1	pancreas:	n/a
49	chr7:39373423-39373473	T-47D	breast:	n/a
50	chr7:39373423-39373473	HMEC	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000206947	TF binding region
ENSG00000206947	CpG island

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

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

rs_ID	r²[population]
rs17619378	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17686557	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17686709	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34744674	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35380149	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4370441	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4720320	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6946515	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6965821	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71536641	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39366400-39373600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39369400-39376000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:39371800-39374400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:39372000-39373800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39372000-39374200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:39372000-39374600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:39372000-39374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:39372000-39379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:39372400-39374200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:39372400-39374600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:39372400-39374800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:39373400-39373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:39373400-39374800	Enhancers	HUES64 Cell Line	embryonic stem cell

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