Variant report

Variant	rs17180252
Chromosome Location	chr14:65239316-65239317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65239217-65239369	IMR90	lung:	n/a	chr14:65239277-65239290
2	CTCF	chr14:65239180-65239431	K562	blood:	n/a	chr14:65239277-65239290
3	SMC3	chr14:65239137-65239483	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr14:65239253-65239375	GM12878	blood:	n/a	chr14:65239277-65239290
5	CTCF	chr14:65239280-65239430	GM12875	blood:	n/a	n/a
6	CTCF	chr14:65239173-65239466	K562	blood:	n/a	chr14:65239277-65239290
7	CTCF	chr14:65239220-65239370	HA-sp	spinal cord:	n/a	chr14:65239277-65239290
8	CTCF	chr14:65239200-65239350	WERI-Rb-1	eye:	n/a	chr14:65239277-65239290
9	CTCF	chr14:65239200-65239350	HepG2	liver:	n/a	chr14:65239277-65239290
10	CTCF	chr14:65239300-65239450	A549	lung:	n/a	n/a
11	CTCF	chr14:65239187-65239416	MCF-7	breast:	n/a	chr14:65239277-65239290
12	CTCF	chr14:65239182-65239460	MCF-7	breast:	n/a	chr14:65239277-65239290
13	CTCF	chr14:65239220-65239370	HBMEC	blood vessel:	n/a	chr14:65239277-65239290
14	CTCF	chr14:65239267-65239336	Pancreas_OC	pancreas:	n/a	chr14:65239277-65239290
15	CTCF	chr14:65239198-65239424	MCF-7	breast:	n/a	chr14:65239277-65239290
16	CTCF	chr14:65239220-65239370	NB4	blood:	n/a	chr14:65239277-65239290
17	CTCF	chr14:65239168-65239402	T-47D	breast:	n/a	chr14:65239277-65239290
18	CTCF	chr14:65239200-65239350	HCPEpiC	choroid plexus:	n/a	chr14:65239277-65239290
19	RAD21	chr14:65239156-65239420	Hela-S3	cervix:	n/a	chr14:65239280-65239290
20	SIN3A	chr14:65239146-65239339	H1-hESC	embryonic stem cell:	n/a	chr14:65239277-65239288
21	ZNF143	chr14:65239277-65239338	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:65239240-65239390	Hela-S3	cervix:	n/a	chr14:65239277-65239290
23	CTCF	chr14:65239218-65239403	MCF-7	breast:	n/a	chr14:65239277-65239290
24	CTCF	chr14:65239159-65239415	A549	lung:	n/a	chr14:65239277-65239290
25	CTCF	chr14:65239200-65239350	HCT-116	colon:	n/a	chr14:65239277-65239290
26	CTCF	chr14:65239280-65239430	GM12874	blood:	n/a	n/a
27	CTCF	chr14:65239200-65239350	MCF-7	breast:	n/a	chr14:65239277-65239290
28	RAD21	chr14:65239103-65239463	HCT-116	colon:	n/a	chr14:65239280-65239290
29	CTCF	chr14:65239195-65239401	LNCaP	prostate:	n/a	chr14:65239277-65239290
30	CTCF	chr14:65239198-65239425	MCF-7	breast:	n/a	chr14:65239277-65239290
31	CTCF	chr14:65239220-65239370	GM12875	blood:	n/a	chr14:65239277-65239290
32	CTCF	chr14:65239226-65239397	A549	lung:	n/a	chr14:65239277-65239290
33	CTCF	chr14:65239203-65239412	HepG2	liver:	n/a	chr14:65239277-65239290
34	RAD21	chr14:65239243-65239377	IMR90	lung:	n/a	chr14:65239280-65239290
35	CTCF	chr14:65239134-65239439	HepG2	liver:	n/a	chr14:65239277-65239290
36	CTCF	chr14:65239260-65239410	RPTEC	kidney:	n/a	chr14:65239277-65239290
37	CTCF	chr14:65239240-65239390	Caco-2	colon:	n/a	chr14:65239277-65239290
38	CTCF	chr14:65239180-65239330	HEK293	kidney:	n/a	chr14:65239277-65239290
39	CTCF	chr14:65239240-65239390	HCT-116	colon:	n/a	chr14:65239277-65239290
40	CTCF	chr14:65239220-65239370	Hela-S3	cervix:	n/a	chr14:65239277-65239290
41	CTCF	chr14:65239200-65239350	GM12871	blood:	n/a	chr14:65239277-65239290
42	CTCF	chr14:65239220-65239370	GM12864	blood:	n/a	chr14:65239277-65239290
43	CTCF	chr14:65239200-65239350	NHEK	skin:	n/a	chr14:65239277-65239290
44	CTCF	chr14:65239280-65239430	GM12866	blood:	n/a	n/a
45	MAZ	chr14:65239222-65239396	HepG2	liver:	n/a	chr14:65239277-65239287
46	RAD21	chr14:65239006-65239530	MCF-7	breast:	n/a	chr14:65239280-65239290
47	CTCF	chr14:65239200-65239350	HEEpiC	esophagus:	n/a	chr14:65239277-65239290
48	CTCF	chr14:65239243-65239366	LNCaP	prostate:	n/a	chr14:65239277-65239290
49	CTCF	chr14:65239198-65239420	Hela-S3	cervix:	n/a	chr14:65239277-65239290
50	CTCF	chr14:65239053-65239528	MCF-7	breast:	n/a	chr14:65239277-65239290

No.	Distal block	Cell Line	Cell type
1	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
2	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
3	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
4	chr14:65238451..65239528-chr14:65450464..65451490,3	MCF-7	breast:
5	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
6	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12433745	1.00[ASN][1000 genomes]
rs17180350	0.89[AMR][1000 genomes]
rs2269305	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2269306	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2269307	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2269308	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4899144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902309	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902313	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
4	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
10	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:65232200-65274200	Weak transcription	Gastric	stomach
13	chr14:65232600-65242600	Strong transcription	K562	blood
14	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
15	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
16	chr14:65234800-65241000	Weak transcription	Spleen	Spleen
17	chr14:65235600-65239800	Strong transcription	Brain Germinal Matrix	brain
18	chr14:65236000-65239400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:65236000-65239600	Weak transcription	Fetal Heart	heart
20	chr14:65236200-65239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:65237000-65242600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65237200-65240000	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:65237400-65242400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:65237800-65240200	Strong transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:65238400-65241400	Strong transcription	Fetal Brain Female	brain
26	chr14:65238800-65240200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:65239200-65240800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:65239200-65242400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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