Variant report

Variant	rs7152059
Chromosome Location	chr14:32547724-32547725
allele	C/T
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	NFIC	chr14:32546940-32548790	HepG2	liver:	n/a	n/a
2	USF2	chr14:32547283-32547846	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr14:32547362-32547838	MCF10A-Er-Src	breast:	n/a	chr14:32547721-32547729
4	MXI1	chr14:32545262-32547923	HepG2	liver:	n/a	n/a
5	MYBL2	chr14:32544793-32548649	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:32545705-32548411	K562	blood:	n/a	n/a
7	POLR2A	chr14:32543904-32549129	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr14:32547643-32547947	SH-SY5Y	brain:	n/a	chr14:32547685-32547701 chr14:32547682-32547703
9	SIN3A	chr14:32546380-32547916	H1-hESC	embryonic stem cell:	n/a	chr14:32546788-32546801 chr14:32546785-32546794
10	MAFK	chr14:32547611-32547923	K562	blood:	n/a	n/a
11	POLR2A	chr14:32543398-32549371	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFK	chr14:32547406-32547824	Hela-S3	cervix:	n/a	n/a
13	ARID3A	chr14:32547232-32548836	HepG2	liver:	n/a	n/a
14	ZNF263	chr14:32546565-32548016	HEK293-T-REx	kidney:	n/a	chr14:32547169-32547178 chr14:32547142-32547163
15	MAX	chr14:32544864-32548015	A549	lung:	n/a	chr14:32546967-32546977 chr14:32546864-32546874 chr14:32546018-32546028 chr14:32546461-32546471
16	POLR2A	chr14:32546177-32549008	HepG2	liver:	n/a	n/a
17	CUX1	chr14:32547660-32548529	K562	blood:	n/a	chr14:32547691-32547700
18	MAZ	chr14:32544926-32548064	IMR90	lung:	n/a	chr14:32546967-32546977 chr14:32546864-32546874 chr14:32546018-32546028 chr14:32546461-32546471
19	MAZ	chr14:32545410-32547838	HepG2	liver:	n/a	chr14:32546967-32546977 chr14:32546864-32546874 chr14:32546018-32546028 chr14:32546461-32546471
20	POLR2A	chr14:32546501-32548198	PBDE	blood:	n/a	n/a
21	CHD1	chr14:32546655-32547812	GM12878	blood:	n/a	n/a
22	MAFF	chr14:32547402-32547760	HepG2	liver:	n/a	n/a
23	FOXA1	chr14:32547035-32548660	HepG2	liver:	n/a	n/a
24	MXI1	chr14:32544829-32548018	IMR90	lung:	n/a	n/a
25	CHD1	chr14:32546600-32547905	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr14:32547407-32548394	HepG2	liver:	n/a	n/a
27	TEAD4	chr14:32547040-32548785	HepG2	liver:	n/a	n/a
28	MBD4	chr14:32546428-32548606	HepG2	liver:	n/a	n/a
29	TBP	chr14:32545428-32547914	HepG2	liver:	n/a	n/a
30	MAFK	chr14:32547367-32547801	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:32544984-32548693	HepG2	liver:	n/a	n/a
32	MYBL2	chr14:32544808-32547821	HepG2	liver:	n/a	n/a
33	NFIC	chr14:32546391-32547736	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
2	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
3	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:
4	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP5-AS1	TF binding region
ENSG00000202337	Chromatin interaction
ENSG00000201654	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10134888	1.00[EUR][1000 genomes]
rs10143850	1.00[EUR][1000 genomes]
rs11849454	1.00[EUR][1000 genomes]
rs12100687	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12100688	1.00[EUR][1000 genomes]
rs12100768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100775	1.00[ASN][1000 genomes]
rs12100930	1.00[EUR][1000 genomes]
rs12100931	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098508	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28765407	1.00[EUR][1000 genomes]
rs28802314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28845852	1.00[EUR][1000 genomes]
rs57218277	1.00[EUR][1000 genomes]
rs58280109	1.00[EUR][1000 genomes]
rs59021515	1.00[EUR][1000 genomes]
rs59609395	1.00[EUR][1000 genomes]
rs7140954	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148967	1.00[MEX][hapmap]
rs7157301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74041589	1.00[EUR][1000 genomes]
rs74041590	1.00[EUR][1000 genomes]
rs74041597	1.00[EUR][1000 genomes]
rs74041599	1.00[EUR][1000 genomes]
rs74041600	1.00[EUR][1000 genomes]
rs8012001	0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021655	1.00[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	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3359965	chr14:32545226-32548074	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32543400-32549200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr14:32543600-32549000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32543600-32550600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:32543800-32549800	Active TSS	HMEC	breast
5	chr14:32544000-32548000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:32544000-32548600	Active TSS	A549	lung
7	chr14:32544000-32549200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:32544200-32547800	Active TSS	Brain Hippocampus Middle	brain
9	chr14:32544200-32548200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:32544200-32548400	Active TSS	Left Ventricle	heart
11	chr14:32544200-32548600	Active TSS	Ovary	ovary
12	chr14:32544200-32548600	Active TSS	Right Ventricle	heart
13	chr14:32544200-32548800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:32544200-32548800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:32544200-32549000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:32544200-32549200	Active TSS	Psoas Muscle	Psoas
17	chr14:32544200-32550000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:32544400-32547800	Active TSS	Brain Substantia Nigra	brain
19	chr14:32544400-32548200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:32544400-32548400	Active TSS	Colonic Mucosa	Colon
21	chr14:32544400-32548600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:32544400-32549000	Active TSS	Aorta	Aorta
23	chr14:32544400-32549200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:32544400-32549200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:32544600-32547800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr14:32544600-32547800	Active TSS	Hela-S3	cervix
27	chr14:32544600-32548000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:32544600-32548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:32544600-32548200	Active TSS	Colon Smooth Muscle	Colon
30	chr14:32544600-32548200	Active TSS	NHDF-Ad	bronchial
31	chr14:32544600-32548400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:32544600-32548400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr14:32544600-32548400	Active TSS	Fetal Intestine Small	intestine
34	chr14:32544600-32548600	Active TSS	NHEK	skin
35	chr14:32544600-32548800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:32544600-32548800	Active TSS	Brain Angular Gyrus	brain
37	chr14:32544600-32548800	Active TSS	NHLF	lung
38	chr14:32544600-32549000	Active TSS	Stomach Smooth Muscle	stomach
39	chr14:32544800-32547800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr14:32544800-32548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:32544800-32548000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:32544800-32548000	Active TSS	Esophagus	oesophagus
43	chr14:32544800-32548000	Active TSS	Fetal Muscle Trunk	muscle
44	chr14:32544800-32548200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:32544800-32548200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:32544800-32548200	Active TSS	Fetal Kidney	kidney
47	chr14:32544800-32548400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:32544800-32548400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:32544800-32548400	Active TSS	Fetal Stomach	stomach
50	chr14:32544800-32548400	Active TSS	Stomach Mucosa	stomach

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