Variant report

Variant	rs73781514
Chromosome Location	chr5:112655575-112655576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:112655373-112655639	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:112655364-112655669	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr5:112655431-112655636	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr5:112655348-112655704	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:112655427-112655599	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:112655378-112655597	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:112655373-112655657	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:112655335-112655608	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:112655367-112655669	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	chr5:112655559-112655609	ECC-1	luminal epithelium:	n/a
2	chr5:112655559-112655609	NT2-D1	testis:	n/a
3	chr5:112655559-112655609	HUVEC	blood vessel:	n/a
4	chr5:112655559-112655609	HNPCEpiC	eye:	n/a
5	chr5:112655559-112655609	SK-N-SH_RA	brain:	n/a
6	chr5:112655559-112655609	HEK293	kidney:	embryo
7	chr5:112655559-112655609	MCF10A-Er-Src	breast:	n/a
8	chr5:112655559-112655609	AoSMC	blood vessel:	n/a
9	chr5:112655559-112655609	GM19239	blood:	n/a
10	chr5:112655559-112655609	HPAEpiC	pulmonary alveolar:	n/a
11	chr5:112655559-112655609	HRPEpiC	eye:	n/a
12	chr5:112655559-112655609	Hela-S3	cervix:	n/a
13	chr5:112655559-112655609	SK-N-MC	brain:	n/a
14	chr5:112655559-112655609	HRE	kidney:	n/a
15	chr5:112655559-112655609	HCF	heart:	n/a
16	chr5:112655559-112655609	RPTEC	kidney:	n/a
17	chr5:112655559-112655609	SAEC	small airway:	n/a
18	chr5:112655559-112655609	PrEC	prostate:	n/a
19	chr5:112655559-112655609	Hepatocyte	liver:	n/a
20	chr5:112655559-112655609	H1-hESC	embryonic stem cell:	embryo
21	chr5:112655559-112655609	SKMC	muscle:	n/a
22	chr5:112655559-112655609	HIPEpiC	eye:	n/a
23	chr5:112655559-112655609	AG10803	skin:	n/a
24	chr5:112655559-112655609	T-47D	breast:	n/a
25	chr5:112655559-112655609	MCF-7	breast:	n/a
26	chr5:112655559-112655609	HCT-116	colon:	n/a
27	chr5:112655559-112655609	GM12878	blood:	n/a
28	chr5:112655559-112655609	GM12891	blood:	n/a
29	chr5:112655559-112655609	HRCEpiC	kidney:	n/a
30	chr5:112655559-112655609	K562	blood:	n/a
31	chr5:112655559-112655609	LNCaP	prostate:	n/a
32	chr5:112655559-112655609	PANC-1	pancreas:	n/a
33	chr5:112655559-112655609	PFSK-1	brain:	n/a
34	chr5:112655559-112655609	NHDF-neo	bronchial:	n/a
35	chr5:112655559-112655609	HL-60	blood:	n/a
36	chr5:112655559-112655609	A549	lung:	n/a
37	chr5:112655559-112655609	Jurkat	blood:	n/a
38	chr5:112655559-112655609	GM12892	blood:	n/a
39	chr5:112655559-112655609	ProgFib	skin:	n/a
40	chr5:112655559-112655609	NB4	blood:	n/a
41	chr5:112655559-112655609	BE2_C	brain:	n/a
42	chr5:112655559-112655609	AG04450	lung:	fetal
43	chr5:112655559-112655609	CMK	blood:	n/a
44	chr5:112655559-112655609	HCPEpiC	choroid plexus:	n/a
45	chr5:112655559-112655609	GM06990	blood:	n/a
46	chr5:112655559-112655609	U87	brain:	n/a
47	chr5:112655559-112655609	SK-N-SH	brain:	n/a
48	chr5:112655559-112655609	HepG2	liver:	n/a
49	chr5:112655559-112655609	AG09319	gingival:	n/a
50	chr5:112655559-112655609	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000232633	TF binding region
ENSG00000232633	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10037836	1.00[ASN][1000 genomes]
rs10037845	1.00[ASN][1000 genomes]
rs10038017	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10040533	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040770	1.00[EUR][1000 genomes]
rs10043512	1.00[ASN][1000 genomes]
rs10044201	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051109	0.94[EUR][1000 genomes]
rs10056104	1.00[ASN][1000 genomes]
rs10058535	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059129	0.94[EUR][1000 genomes]
rs10070884	1.00[ASN][1000 genomes]
rs10070990	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074346	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075447	0.94[EUR][1000 genomes]
rs10478121	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519344	1.00[EUR][1000 genomes]
rs11953478	0.94[EUR][1000 genomes]
rs11954016	0.94[EUR][1000 genomes]
rs11954410	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958613	1.00[ASN][1000 genomes]
rs11958734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13356396	0.81[EUR][1000 genomes]
rs13361059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362158	0.94[EUR][1000 genomes]
rs17135493	0.85[EUR][1000 genomes]
rs17135568	1.00[ASN][1000 genomes]
rs17135570	1.00[ASN][1000 genomes]
rs1882620	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462299	1.00[ASN][1000 genomes]
rs28494592	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794576	0.94[EUR][1000 genomes]
rs56875463	0.94[EUR][1000 genomes]
rs57727389	1.00[ASN][1000 genomes]
rs61560548	1.00[ASN][1000 genomes]
rs6868620	1.00[ASN][1000 genomes]
rs6874313	1.00[ASN][1000 genomes]
rs6874561	0.85[EUR][1000 genomes]
rs73779001	1.00[EUR][1000 genomes]
rs73779022	0.94[EUR][1000 genomes]
rs73781511	0.86[ASN][1000 genomes]
rs73781512	1.00[ASN][1000 genomes]
rs73781513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700940	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718459	1.00[ASN][1000 genomes]
rs7719166	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720189	1.00[ASN][1000 genomes]
rs7736171	1.00[ASN][1000 genomes]
rs9285877	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326881	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326882	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326883	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112655000-112657600	Enhancers	Liver	Liver
4	chr5:112655200-112655800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112655200-112656000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112655200-112656200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112655200-112656400	Enhancers	Stomach Mucosa	stomach
8	chr5:112655400-112655600	Enhancers	Placenta	Placenta
9	chr5:112655400-112656000	Enhancers	HMEC	breast
10	chr5:112655400-112657400	Enhancers	Primary hematopoietic stem cells	blood

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