Variant report

Variant	rs723360
Chromosome Location	chr8:95221384-95221385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr8:95220729-95221423	A549	lung:	n/a	chr8:95221254-95221262 chr8:95221254-95221262 chr8:95221180-95221194 chr8:95221253-95221263 chr8:95221254-95221261 chr8:95221253-95221263

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95221342-95221392	HCM	heart:	n/a
2	chr8:95221342-95221392	BE2_C	brain:	n/a
3	chr8:95221342-95221392	ProgFib	skin:	n/a
4	chr8:95221342-95221392	NHBE	bronchial:	n/a
5	chr8:95221342-95221392	U87	brain:	n/a
6	chr8:95221342-95221392	SK-N-MC	brain:	n/a
7	chr8:95221342-95221392	HCPEpiC	choroid plexus:	n/a
8	chr8:95221342-95221392	NB4	blood:	n/a
9	chr8:95221342-95221392	MCF10A-Er-Src	breast:	n/a
10	chr8:95221342-95221392	GM12891	blood:	n/a
11	chr8:95221342-95221392	MCF-7	breast:	n/a
12	chr8:95221342-95221392	LNCaP	prostate:	n/a
13	chr8:95221342-95221392	HNPCEpiC	eye:	n/a
14	chr8:95221342-95221392	Hela-S3	cervix:	n/a
15	chr8:95221342-95221392	HIPEpiC	eye:	n/a
16	chr8:95221342-95221392	IMR90	lung:	fetal
17	chr8:95221342-95221392	HRE	kidney:	n/a
18	chr8:95221342-95221392	SKMC	muscle:	n/a
19	chr8:95221342-95221392	PANC-1	pancreas:	n/a
20	chr8:95221342-95221392	AG04450	lung:	fetal
21	chr8:95221342-95221392	NT2-D1	testis:	n/a
22	chr8:95221342-95221392	HRPEpiC	eye:	n/a
23	chr8:95221342-95221392	HEEpiC	esophagus:	n/a
24	chr8:95221342-95221392	T-47D	breast:	n/a
25	chr8:95221342-95221392	Jurkat	blood:	n/a
26	chr8:95221342-95221392	GM12892	blood:	n/a
27	chr8:95221342-95221392	SK-N-SH_RA	brain:	n/a
28	chr8:95221342-95221392	NHDF-neo	bronchial:	n/a
29	chr8:95221342-95221392	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:95221342-95221392	HMEC	breast:	n/a
31	chr8:95221342-95221392	HCT-116	colon:	n/a
32	chr8:95221342-95221392	HAEpiC	amniotic membrane:	n/a
33	chr8:95221342-95221392	AG09319	gingival:	n/a
34	chr8:95221342-95221392	GM19239	blood:	n/a
35	chr8:95221342-95221392	HUVEC	blood vessel:	n/a
36	chr8:95221342-95221392	PFSK-1	brain:	n/a
37	chr8:95221342-95221392	A549	lung:	n/a
38	chr8:95221342-95221392	GM12878	blood:	n/a
39	chr8:95221342-95221392	Hepatocyte	liver:	n/a
40	chr8:95221342-95221392	AG04449	skin:	fetal
41	chr8:95221342-95221392	ovcar-3	ovarian:	n/a
42	chr8:95221342-95221392	SAEC	small airway:	n/a
43	chr8:95221342-95221392	AoSMC	blood vessel:	n/a
44	chr8:95221342-95221392	AG09309	skin:	n/a
45	chr8:95221342-95221392	H1-hESC	embryonic stem cell:	embryo
46	chr8:95221342-95221392	K562	blood:	n/a
47	chr8:95221342-95221392	HCF	heart:	n/a
48	chr8:95221342-95221392	HL-60	blood:	n/a
49	chr8:95221342-95221392	HEK293	kidney:	embryo
50	chr8:95221342-95221392	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
CDH17	TF binding region
CDH17	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10504934	0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.82[ASN][1000 genomes]
rs10956904	0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.82[ASN][1000 genomes]
rs10956905	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956906	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777372	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779791	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056835	0.84[EUR][1000 genomes]
rs12114629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1350283	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727794	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817244	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1817245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971965	0.81[ASN][1000 genomes]
rs2005489	0.82[ASN][1000 genomes]
rs2613213	0.90[JPT][hapmap]
rs2613221	0.84[ASN][1000 genomes]
rs2613225	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2623155	0.82[ASN][1000 genomes]
rs2623156	0.82[ASN][1000 genomes]
rs2623157	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2623165	0.82[ASN][1000 genomes]
rs34689002	0.80[ASN][1000 genomes]
rs3757995	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3886489	0.85[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs4587298	0.82[ASN][1000 genomes]
rs4734271	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55795711	0.82[ASN][1000 genomes]
rs56129387	0.82[ASN][1000 genomes]
rs59773910	0.83[ASN][1000 genomes]
rs60945589	0.83[ASN][1000 genomes]
rs62523262	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62523265	0.83[ASN][1000 genomes]
rs62523266	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523277	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523279	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981215	0.97[ASN][1000 genomes]
rs6989467	0.81[CHB][hapmap];0.80[CHD][hapmap];0.82[ASN][1000 genomes]
rs755917	1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[ASN][1000 genomes]
rs7819765	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874019	0.82[ASN][1000 genomes]
rs900051	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9642922	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643341	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978639	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv518636	chr8:95196794-95233336	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539678	chr8:95197036-95225644	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1030292	chr8:95198982-95231692	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv522024	chr8:95199215-95232449	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1020665	chr8:95199302-95232062	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs723360	LAPTM4B	cis	parietal	SCAN
rs723360	PGCP	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95217200-95221400	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:95218200-95221600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:95219800-95224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:95219800-95224400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:95220000-95224400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:95220200-95224200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:95220200-95224200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:95220200-95224400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:95220800-95221400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:95220800-95221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:95220800-95222800	Enhancers	Fetal Intestine Small	intestine
12	chr8:95220800-95230800	Weak transcription	Small Intestine	intestine
13	chr8:95221000-95221400	Flanking Active TSS	A549	lung
14	chr8:95221200-95221400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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