Variant report

Variant	rs337340
Chromosome Location	chr5:177015614-177015615
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:177015557-177015828	K562	blood:	n/a	n/a
2	HNF4A	chr5:177015596-177015910	HepG2	liver:	n/a	n/a
3	MYBL2	chr5:177015418-177015985	HepG2	liver:	n/a	n/a
4	BACH1	chr5:177015512-177015739	K562	blood:	n/a	n/a
5	TEAD4	chr5:177015574-177016021	K562	blood:	n/a	n/a
6	HDAC2	chr5:177015518-177015932	HepG2	liver:	n/a	n/a
7	FOXA1	chr5:177015422-177016104	HepG2	liver:	n/a	n/a
8	RXRA	chr5:177015511-177015975	HepG2	liver:	n/a	n/a
9	TBL1XR1	chr5:177015313-177016101	K562	blood:	n/a	n/a
10	FOXA1	chr5:177015430-177016027	HepG2	liver:	n/a	n/a
11	CTCF	chr5:177015580-177015730	HepG2	liver:	n/a	n/a
12	UBTF	chr5:177015513-177015853	K562	blood:	n/a	n/a
13	HNF4G	chr5:177015584-177015945	HepG2	liver:	n/a	n/a
14	EP300	chr5:177015494-177015958	HepG2	liver:	n/a	n/a
15	RAD21	chr5:177015534-177015810	HepG2	liver:	n/a	n/a
16	KAP1	chr5:177015366-177015982	HEK293	kidney:	n/a	n/a
17	TEAD4	chr5:177015468-177016073	HepG2	liver:	n/a	n/a
18	MAX	chr5:177015548-177015795	K562	blood:	n/a	n/a
19	CTCF	chr5:177015586-177015650	HepG2	liver:	n/a	n/a
20	E2F6	chr5:177015575-177015714	K562	blood:	n/a	n/a
21	FOXA2	chr5:177015460-177016005	HepG2	liver:	n/a	n/a
22	SETDB1	chr5:177015360-177015932	U2OS	brain:	n/a	n/a
23	ATF1	chr5:177015319-177016003	K562	blood:	n/a	n/a
24	FOXA1	chr5:177015428-177016108	HepG2	liver:	n/a	n/a
25	CEBPD	chr5:177015543-177015866	HepG2	liver:	n/a	n/a
26	JUND	chr5:177015346-177015921	K562	blood:	n/a	n/a
27	EP300	chr5:177015550-177015927	HepG2	liver:	n/a	n/a
28	MAZ	chr5:177015508-177015732	K562	blood:	n/a	n/a
29	CTCF	chr5:177015560-177015710	Caco-2	colon:	n/a	n/a
30	RCOR1	chr5:177015467-177015837	K562	blood:	n/a	n/a
31	NFIC	chr5:177015558-177015912	HepG2	liver:	n/a	n/a
32	ZBTB7A	chr5:177015513-177015707	K562	blood:	n/a	n/a
33	SP1	chr5:177015463-177015938	HepG2	liver:	n/a	n/a
34	RCOR1	chr5:177015475-177015722	K562	blood:	n/a	n/a
35	MAX	chr5:177015445-177015832	K562	blood:	n/a	n/a
36	FOXA2	chr5:177015523-177016085	A549	lung:	n/a	n/a
37	FOXA2	chr5:177015380-177016292	HepG2	liver:	n/a	n/a
38	FOXA2	chr5:177015612-177015967	A549	lung:	n/a	n/a
39	ARID3A	chr5:177015558-177015958	HepG2	liver:	n/a	n/a
40	MAX	chr5:177015446-177015988	HepG2	liver:	n/a	n/a
41	MYC	chr5:177015469-177015918	K562	blood:	n/a	n/a
42	EGR1	chr5:177015408-177015688	K562	blood:	n/a	n/a
43	EGR1	chr5:177015397-177015799	K562	blood:	n/a	n/a
44	EP300	chr5:177015477-177015859	K562	blood:	n/a	n/a
45	MXI1	chr5:177015532-177015931	HepG2	liver:	n/a	n/a
46	MYC	chr5:177015573-177015666	K562	blood:	n/a	n/a
47	MAFK	chr5:177015557-177015811	K562	blood:	n/a	n/a
48	REST	chr5:177015580-177015926	HepG2	liver:	n/a	n/a
49	FOXA1	chr5:177015435-177015989	HepG2	liver:	n/a	n/a
50	CBX3	chr5:177015403-177015822	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
2	chr5:176977384..176979109-chr5:177015440..177017120,2	K562	blood:
3	chr5:177013361..177016176-chr5:177017373..177019237,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11490750	0.82[ASN][1000 genomes]
rs168080	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168081	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1843633	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186803	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046511	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234375	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28375402	0.80[ASN][1000 genomes]
rs28403900	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461466	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28496282	0.86[ASN][1000 genomes]
rs337361	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337364	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337365	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs430797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446709	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs337340	FAM153C	cis	Esophagus Muscularis	GTEx
rs337340	B4GALT7	cis	Whole Blood	GTEx
rs337340	TMED9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177014200-177018600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:177015400-177015800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177015400-177016000	Flanking Active TSS	HepG2	liver
4	chr5:177015400-177016000	Flanking Active TSS	K562	blood
5	chr5:177015400-177016200	Enhancers	Stomach Mucosa	stomach
6	chr5:177015600-177015800	Enhancers	Gastric	stomach

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