Variant report

Variant	rs13329104
Chromosome Location	chr15:76016057-76016058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCC1	chr15:76015634-76016770	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr15:76015977-76016302	K562	blood:	n/a	n/a
3	MAZ	chr15:76015405-76017112	IMR90	lung:	n/a	chr15:76016000-76016010 chr15:76016278-76016287
4	RCOR1	chr15:76015977-76016380	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr15:76015999-76016704	HepG2	liver:	n/a	chr15:76016329-76016342
6	POLR2A	chr15:76015719-76016620	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr15:76016044-76016575	HepG2	liver:	n/a	chr15:76016331-76016340
8	MXI1	chr15:76015568-76016560	IMR90	lung:	n/a	chr15:76016272-76016287 chr15:76016274-76016289
9	JUND	chr15:76015884-76016762	SK-N-SH	brain:	n/a	chr15:76016331-76016340
10	EP300	chr15:76016026-76016612	HepG2	liver:	n/a	n/a
11	MAZ	chr15:76015971-76016457	K562	blood:	n/a	chr15:76016000-76016010 chr15:76016278-76016287
12	CEBPB	chr15:76016052-76016487	Hela-S3	cervix:	n/a	n/a
13	ZBTB7A	chr15:76016044-76016255	K562	blood:	n/a	n/a
14	ZNF263	chr15:76015508-76016473	HEK293-T-REx	kidney:	n/a	chr15:76015785-76015806 chr15:76015885-76015894
15	JUN	chr15:76015341-76016687	K562	blood:	n/a	chr15:76016330-76016343 chr15:76016331-76016340
16	GTF2F1	chr15:76016042-76016230	K562	blood:	n/a	n/a
17	ZMIZ1	chr15:76015916-76016122	K562	blood:	n/a	n/a
18	POLR2A	chr15:76015686-76017007	IMR90	lung:	n/a	n/a
19	JUND	chr15:76016004-76016657	GM12878	blood:	n/a	chr15:76016331-76016340

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76016056-76016106	HRE	kidney:	n/a
2	chr15:76016056-76016106	SK-N-SH_RA	brain:	n/a
3	chr15:76016056-76016106	SKMC	muscle:	n/a
4	chr15:76016056-76016106	BJ	skin:	n/a
5	chr15:76016056-76016106	HRPEpiC	eye:	n/a
6	chr15:76016056-76016106	Hela-S3	cervix:	n/a
7	chr15:76016056-76016106	GM19239	blood:	n/a
8	chr15:76016056-76016106	SK-N-MC	brain:	n/a
9	chr15:76016056-76016106	HepG2	liver:	n/a
10	chr15:76016056-76016106	HCF	heart:	n/a
11	chr15:76016056-76016106	NT2-D1	testis:	n/a
12	chr15:76016056-76016106	MCF10A-Er-Src	breast:	n/a
13	chr15:76016056-76016106	HNPCEpiC	eye:	n/a
14	chr15:76016056-76016106	HRCEpiC	kidney:	n/a
15	chr15:76016056-76016106	GM12892	blood:	n/a
16	chr15:76016056-76016106	AG04449	skin:	fetal
17	chr15:76016056-76016106	HCPEpiC	choroid plexus:	n/a
18	chr15:76016056-76016106	HL-60	blood:	n/a
19	chr15:76016056-76016106	BE2_C	brain:	n/a
20	chr15:76016056-76016106	PrEC	prostate:	n/a
21	chr15:76016056-76016106	HCM	heart:	n/a
22	chr15:76016056-76016106	NHBE	bronchial:	n/a
23	chr15:76016056-76016106	HCT-116	colon:	n/a
24	chr15:76016056-76016106	AG10803	skin:	n/a
25	chr15:76016056-76016106	ovcar-3	ovarian:	n/a
26	chr15:76016056-76016106	IMR90	lung:	fetal
27	chr15:76016056-76016106	T-47D	breast:	n/a
28	chr15:76016056-76016106	HMEC	breast:	n/a
29	chr15:76016056-76016106	U87	brain:	n/a
30	chr15:76016056-76016106	H1-hESC	embryonic stem cell:	embryo
31	chr15:76016056-76016106	LNCaP	prostate:	n/a
32	chr15:76016056-76016106	AG09309	skin:	n/a
33	chr15:76016056-76016106	K562	blood:	n/a
34	chr15:76016056-76016106	GM06990	blood:	n/a
35	chr15:76016056-76016106	Jurkat	blood:	n/a
36	chr15:76016056-76016106	ECC-1	luminal epithelium:	n/a
37	chr15:76016056-76016106	SAEC	small airway:	n/a
38	chr15:76016056-76016106	NH-A	brain:	n/a
39	chr15:76016056-76016106	NHDF-neo	bronchial:	n/a
40	chr15:76016056-76016106	SK-N-SH	brain:	n/a
41	chr15:76016056-76016106	Hepatocyte	liver:	n/a
42	chr15:76016056-76016106	Caco-2	colon:	n/a
43	chr15:76016056-76016106	AG09319	gingival:	n/a
44	chr15:76016056-76016106	HUVEC	blood vessel:	n/a
45	chr15:76016056-76016106	HIPEpiC	eye:	n/a
46	chr15:76016056-76016106	PANC-1	pancreas:	n/a
47	chr15:76016056-76016106	GM12891	blood:	n/a
48	chr15:76016056-76016106	HEK293	kidney:	embryo
49	chr15:76016056-76016106	HAEpiC	amniotic membrane:	n/a
50	chr15:76016056-76016106	AG04450	lung:	fetal

No data

Variant related genes	Relation type
ODF3L1	TF binding region
ODF3L1	CpG island

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10163112	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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];0.97[ASN][1000 genomes]
rs10519109	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11852712	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11854305	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11858818	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12101948	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs12594344	0.80[ASN][1000 genomes]
rs12898509	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12899163	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12899303	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12900007	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12900167	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12903661	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12904654	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12905062	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12905730	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1838939	0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs1996302	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1996303	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2002668	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2004631	0.85[ASN][1000 genomes]
rs2004920	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2009508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2017312	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2028948	0.87[ASN][1000 genomes]
rs2290484	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2405718	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2405719	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2405882	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28404806	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28541422	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28615348	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28651447	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28657001	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28688252	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28695212	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28695716	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28744558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28833005	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28837134	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34402412	0.95[EUR][1000 genomes]
rs34469290	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34571038	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34605750	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34611707	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34941412	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34951369	0.86[ASN][1000 genomes]
rs35019194	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35135316	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35136767	0.81[AMR][1000 genomes]
rs35147271	0.84[AMR][1000 genomes]
rs35411779	0.81[EUR][1000 genomes]
rs35745834	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35842909	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36057011	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4503758	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4886742	0.83[ASN][1000 genomes]
rs55744943	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57905971	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60214227	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67908345	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71403504	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7163633	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7165531	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7181595	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74026532	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8026234	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8027311	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8028002	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
6	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13329104	FBXO22	cis	parietal	SCAN
rs13329104	UBE2Q2	cis	cerebellum	SCAN
rs13329104	ARID3B	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76009400-76017600	Enhancers	Stomach Mucosa	stomach
2	chr15:76013000-76018600	Enhancers	Fetal Muscle Leg	muscle
3	chr15:76013200-76017800	Enhancers	Fetal Stomach	stomach
4	chr15:76013400-76017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr15:76013600-76025000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:76013800-76029800	Weak transcription	HSMM	muscle
7	chr15:76014200-76018800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:76014800-76017600	Enhancers	Fetal Intestine Small	intestine
9	chr15:76015000-76017000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:76015000-76017000	Enhancers	Fetal Thymus	thymus
11	chr15:76015200-76016600	Enhancers	A549	lung
12	chr15:76015200-76016800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:76015200-76017000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:76015200-76017000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:76015200-76017200	Enhancers	Colon Smooth Muscle	Colon
16	chr15:76015200-76017200	Enhancers	Fetal Lung	lung
17	chr15:76015200-76017600	Enhancers	Fetal Intestine Large	intestine
18	chr15:76015400-76016200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:76015400-76016600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr15:76015400-76018600	Enhancers	Placenta	Placenta
21	chr15:76015600-76016600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:76015600-76016600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:76015600-76016600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr15:76015600-76016600	Enhancers	Brain Germinal Matrix	brain
25	chr15:76015600-76016600	Enhancers	Esophagus	oesophagus
26	chr15:76015600-76016600	Enhancers	Left Ventricle	heart
27	chr15:76015600-76016600	Enhancers	Lung	lung
28	chr15:76015600-76016600	Enhancers	Small Intestine	intestine
29	chr15:76015600-76016600	Enhancers	K562	blood
30	chr15:76015600-76016800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:76015600-76016800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:76015600-76016800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:76015600-76016800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:76015600-76016800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:76015600-76016800	Enhancers	Right Atrium	heart
36	chr15:76015600-76016800	Enhancers	Right Ventricle	heart
37	chr15:76015600-76016800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr15:76015600-76016800	Enhancers	NH-A	brain
39	chr15:76015600-76017000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:76015600-76017000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr15:76015600-76017000	Enhancers	HMEC	breast
42	chr15:76015600-76017000	Enhancers	NHLF	lung
43	chr15:76015600-76017200	Enhancers	Fetal Kidney	kidney
44	chr15:76015600-76017200	Enhancers	Rectal Smooth Muscle	rectum
45	chr15:76015600-76018800	Enhancers	Fetal Heart	heart
46	chr15:76015800-76016200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr15:76015800-76016200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr15:76015800-76016200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr15:76015800-76016200	Flanking Active TSS	Hela-S3	cervix
50	chr15:76015800-76016200	Flanking Active TSS	NHEK	skin

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