Variant report

Variant	rs13154281
Chromosome Location	chr5:126409188-126409189
allele	C/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	chr5:126409140-126409290	GM12878	blood:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
2	GABPA	chr5:126408761-126409538	A549	lung:	n/a	n/a
3	RCOR1	chr5:126409018-126409484	HepG2	liver:	n/a	n/a
4	E2F6	chr5:126408753-126409526	A549	lung:	n/a	chr5:126409206-126409216 chr5:126409219-126409229
5	POLR2A	chr5:126408919-126409502	HEK293	kidney:	n/a	n/a
6	MAX	chr5:126408816-126409498	HCT-116	colon:	n/a	chr5:126409236-126409245
7	HEY1	chr5:126408917-126409390	HepG2	liver:	n/a	n/a
8	NFATC1	chr5:126408741-126409448	GM12878	blood:	n/a	n/a
9	CTCF	chr5:126409100-126409250	AoAF	blood vessel:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
10	POLR2A	chr5:126408543-126409480	GM18505	blood:	n/a	n/a
11	ARID3A	chr5:126408562-126409327	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:126408567-126409839	HepG2	liver:	n/a	n/a
13	ZNF384	chr5:126408727-126409309	K562	blood:	n/a	n/a
14	RAD21	chr5:126409053-126409371	HepG2	liver:	n/a	chr5:126409210-126409224
15	RFX5	chr5:126409014-126409266	HepG2	liver:	n/a	n/a
16	SPI1	chr5:126409014-126409349	HL-60	blood:	n/a	n/a
17	GABPA	chr5:126408976-126409327	GM12878	blood:	n/a	n/a
18	NFIC	chr5:126408863-126409531	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:126408537-126409506	HepG2	liver:	n/a	n/a
20	CREB1	chr5:126408968-126409417	A549	lung:	n/a	n/a
21	MYC	chr5:126408844-126409399	K562	blood:	n/a	chr5:126409236-126409245
22	CTCF	chr5:126409180-126409330	GM12872	blood:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
23	TCF3	chr5:126408912-126409408	GM12878	blood:	n/a	n/a
24	CTCF	chr5:126409040-126409190	GM12867	blood:	n/a	n/a
25	CHD2	chr5:126408971-126409189	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr5:126409001-126409354	HepG2	liver:	n/a	chr5:126409236-126409245
27	CTCF	chr5:126409120-126409270	HBMEC	blood vessel:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
28	TBP	chr5:126409017-126409260	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr5:126409008-126409213	K562	blood:	n/a	n/a
30	REST	chr5:126408875-126409336	HepG2	liver:	n/a	n/a
31	RUNX3	chr5:126408808-126409399	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:126408875-126409408	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr5:126408699-126409594	SK-N-MC	brain:	n/a	n/a
34	MAZ	chr5:126408948-126409413	K562	blood:	n/a	chr5:126409236-126409245
35	PML	chr5:126408877-126409465	MCF-7	breast:	n/a	n/a
36	IRF1	chr5:126408982-126409406	K562	blood:	n/a	n/a
37	MAX	chr5:126408841-126409457	K562	blood:	n/a	chr5:126409236-126409245
38	CTCF	chr5:126409080-126409230	HFF	foreskin:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
39	EGR1	chr5:126409025-126409330	GM12878	blood:	n/a	chr5:126409229-126409238 chr5:126409188-126409197 chr5:126409302-126409312
40	POLR2A	chr5:126408829-126409514	GM12892	blood:	n/a	n/a
41	MAX	chr5:126408924-126409452	GM12878	blood:	n/a	chr5:126409236-126409245
42	CTCF	chr5:126409120-126409270	HVMF	connective:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
43	SIN3AK20	chr5:126408606-126409344	SK-N-SH	brain:	n/a	n/a
44	ELF1	chr5:126408933-126409443	K562	blood:	n/a	chr5:126409187-126409200 chr5:126409211-126409223
45	CEBPD	chr5:126408991-126409305	HepG2	liver:	n/a	n/a
46	ELF1	chr5:126408821-126409630	MCF-7	breast:	n/a	chr5:126409187-126409200 chr5:126409211-126409223
47	E2F6	chr5:126408948-126409402	A549	lung:	n/a	chr5:126409206-126409216 chr5:126409219-126409229
48	CTCF	chr5:126409100-126409250	GM12873	blood:	n/a	chr5:126409203-126409216 chr5:126409203-126409212
49	ELF1	chr5:126408903-126409430	SK-N-SH	brain:	n/a	chr5:126409187-126409200 chr5:126409211-126409223
50	POLR2A	chr5:126409022-126409355	Gliobla	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:126409153-126409203	NHDF-neo	bronchial:	n/a
2	chr5:126409153-126409203	HRPEpiC	eye:	n/a
3	chr5:126409153-126409203	HCF	heart:	n/a
4	chr5:126409153-126409203	NHBE	bronchial:	n/a
5	chr5:126409153-126409203	AG09319	gingival:	n/a
6	chr5:126409153-126409203	NT2-D1	testis:	n/a
7	chr5:126409153-126409203	SK-N-MC	brain:	n/a
8	chr5:126409153-126409203	K562	blood:	n/a
9	chr5:126409153-126409203	HCPEpiC	choroid plexus:	n/a
10	chr5:126409153-126409203	HNPCEpiC	eye:	n/a
11	chr5:126409153-126409203	A549	lung:	n/a
12	chr5:126409153-126409203	GM12878	blood:	n/a
13	chr5:126409153-126409203	AG09309	skin:	n/a
14	chr5:126409153-126409203	GM12891	blood:	n/a
15	chr5:126409153-126409203	AoSMC	blood vessel:	n/a
16	chr5:126409153-126409203	SKMC	muscle:	n/a
17	chr5:126409153-126409203	CMK	blood:	n/a
18	chr5:126409153-126409203	Hela-S3	cervix:	n/a
19	chr5:126409153-126409203	HepG2	liver:	n/a
20	chr5:126409153-126409203	SAEC	small airway:	n/a
21	chr5:126409153-126409203	NB4	blood:	n/a
22	chr5:126409153-126409203	AG10803	skin:	n/a
23	chr5:126409153-126409203	IMR90	lung:	fetal
24	chr5:126409153-126409203	Caco-2	colon:	n/a
25	chr5:126409153-126409203	ProgFib	skin:	n/a
26	chr5:126409153-126409203	Hepatocyte	liver:	n/a
27	chr5:126409153-126409203	GM19239	blood:	n/a
28	chr5:126409153-126409203	NH-A	brain:	n/a
29	chr5:126409153-126409203	HL-60	blood:	n/a
30	chr5:126409153-126409203	ECC-1	luminal epithelium:	n/a
31	chr5:126409153-126409203	HEK293	kidney:	embryo
32	chr5:126409153-126409203	HIPEpiC	eye:	n/a
33	chr5:126409153-126409203	PrEC	prostate:	n/a
34	chr5:126409153-126409203	H1-hESC	embryonic stem cell:	embryo
35	chr5:126409153-126409203	BJ	skin:	n/a
36	chr5:126409153-126409203	AG04450	lung:	fetal
37	chr5:126409153-126409203	RPTEC	kidney:	n/a
38	chr5:126409153-126409203	SK-N-SH_RA	brain:	n/a
39	chr5:126409153-126409203	BE2_C	brain:	n/a
40	chr5:126409153-126409203	ovcar-3	ovarian:	n/a
41	chr5:126409153-126409203	SK-N-SH	brain:	n/a
42	chr5:126409153-126409203	MCF-7	breast:	n/a
43	chr5:126409153-126409203	PFSK-1	brain:	n/a
44	chr5:126409153-126409203	PANC-1	pancreas:	n/a
45	chr5:126409153-126409203	T-47D	breast:	n/a
46	chr5:126409153-126409203	MCF10A-Er-Src	breast:	n/a
47	chr5:126409153-126409203	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:126409153-126409203	HRCEpiC	kidney:	n/a
49	chr5:126409153-126409203	HRE	kidney:	n/a
50	chr5:126409153-126409203	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126364877..126368459-chr5:126407436..126411131,4	MCF-7	breast:
2	chr5:126364290..126367111-chr5:126408529..126412360,4	MCF-7	breast:
3	chr5:126364050..126367985-chr5:126407589..126410597,4	K562	blood:
4	chr5:126365773..126367830-chr5:126407441..126409970,2	K562	blood:

Variant related genes	Relation type
C5orf63	TF binding region
C5orf63	CpG island
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10035217	0.80[EUR][1000 genomes]
rs10038644	0.85[EUR][1000 genomes]
rs10041457	0.85[EUR][1000 genomes]
rs10051184	0.81[EUR][1000 genomes]
rs10057084	0.84[EUR][1000 genomes]
rs10060747	0.82[EUR][1000 genomes]
rs10062622	0.86[EUR][1000 genomes]
rs10067364	0.87[EUR][1000 genomes]
rs1013662	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10463826	0.83[EUR][1000 genomes]
rs11241916	0.84[EUR][1000 genomes]
rs11960799	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12515192	0.84[EUR][1000 genomes]
rs12655640	0.87[EUR][1000 genomes]
rs12657369	0.84[EUR][1000 genomes]
rs13189409	0.85[EUR][1000 genomes]
rs13190493	0.85[EUR][1000 genomes]
rs1543815	0.85[EUR][1000 genomes]
rs1860440	0.84[EUR][1000 genomes]
rs1860441	0.82[EUR][1000 genomes]
rs2041318	0.84[EUR][1000 genomes]
rs2108458	0.85[EUR][1000 genomes]
rs2108459	0.85[EUR][1000 genomes]
rs2191209	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2408788	0.85[EUR][1000 genomes]
rs2408789	0.85[EUR][1000 genomes]
rs248042	0.82[EUR][1000 genomes]
rs3915634	0.84[EUR][1000 genomes]
rs3936304	0.87[EUR][1000 genomes]
rs3936305	0.87[EUR][1000 genomes]
rs4455612	0.83[EUR][1000 genomes]
rs4835921	0.83[EUR][1000 genomes]
rs4835922	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4836306	0.83[EUR][1000 genomes]
rs4836310	0.85[EUR][1000 genomes]
rs4836313	0.85[EUR][1000 genomes]
rs6595746	0.81[EUR][1000 genomes]
rs6873502	0.85[EUR][1000 genomes]
rs6875043	0.87[EUR][1000 genomes]
rs6881948	0.85[EUR][1000 genomes]
rs6883106	0.85[EUR][1000 genomes]
rs6883627	0.85[EUR][1000 genomes]
rs6883871	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6884988	0.85[EUR][1000 genomes]
rs6891436	0.82[EUR][1000 genomes]
rs6899133	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727038	0.85[EUR][1000 genomes]
rs729607	0.82[EUR][1000 genomes]
rs7706333	0.85[EUR][1000 genomes]
rs7731621	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7734890	0.85[EUR][1000 genomes]
rs7736693	0.85[EUR][1000 genomes]
rs9327424	0.84[EUR][1000 genomes]
rs9327426	0.84[EUR][1000 genomes]
rs9327428	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9687751	0.82[EUR][1000 genomes]
rs9687752	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13154281	C5orf63	cis	Esophagus Muscularis	GTEx
rs13154281	C5orf63	cis	Nerve Tibial	GTEx
rs13154281	C5orf63	cis	Artery Tibial	GTEx
rs13154281	MARCH3	cis	Muscle Skeletal	GTEx
rs13154281	C5orf63	cis	Artery Aorta	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126393600-126412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126406600-126409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126406600-126409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:126406600-126411800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:126406600-126412000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126406600-126412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:126406800-126411800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:126408000-126409400	Active TSS	GM12878-XiMat	blood
9	chr5:126408200-126409400	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:126408200-126409400	Active TSS	Fetal Kidney	kidney
11	chr5:126408200-126409400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr5:126408200-126409400	Active TSS	A549	lung
13	chr5:126408200-126409400	Active TSS	K562	blood
14	chr5:126408200-126409600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:126408200-126409600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:126408200-126410000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:126408400-126409200	Active TSS	Right Atrium	heart
18	chr5:126408400-126409200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:126408400-126409400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:126408400-126409400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:126408400-126409400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:126408400-126409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:126408400-126409400	Active TSS	Brain Anterior Caudate	brain
24	chr5:126408400-126409400	Active TSS	Fetal Brain Female	brain
25	chr5:126408400-126409400	Active TSS	Fetal Stomach	stomach
26	chr5:126408400-126409400	Active TSS	Left Ventricle	heart
27	chr5:126408400-126409400	Active TSS	Pancreas	Pancrea
28	chr5:126408400-126409400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:126408400-126409400	Active TSS	NH-A	brain
30	chr5:126408400-126409600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:126408400-126409600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:126408400-126409600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:126408400-126409600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:126408400-126409600	Active TSS	Colonic Mucosa	Colon
35	chr5:126408400-126409600	Active TSS	Colon Smooth Muscle	Colon
36	chr5:126408400-126409600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr5:126408400-126409600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:126408400-126409600	Active TSS	Psoas Muscle	Psoas
39	chr5:126408400-126409600	Active TSS	Right Ventricle	heart
40	chr5:126408400-126409600	Active TSS	Thymus	Thymus
41	chr5:126408400-126409600	Active TSS	HSMMtube	muscle
42	chr5:126408400-126409600	Flanking Active TSS	HUVEC	blood vessel
43	chr5:126408400-126409600	Active TSS	NHDF-Ad	bronchial
44	chr5:126408400-126409800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr5:126408400-126409800	Active TSS	Rectal Smooth Muscle	rectum
46	chr5:126408400-126409800	Active TSS	Stomach Smooth Muscle	stomach
47	chr5:126408400-126409800	Active TSS	HSMM	muscle
48	chr5:126408400-126409800	Active TSS	Osteobl	bone
49	chr5:126408600-126409200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr5:126408600-126409200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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