Variant report

Variant	rs55764335
Chromosome Location	chr6:28740622-28740623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:28740340-28740700	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chr6:28740432-28740663	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr6:28740359-28740638	Hela-S3	cervix:	n/a	n/a
4	JUN	chr6:28740341-28740705	K562	blood:	n/a	n/a
5	ATF3	chr6:28740255-28740742	K562	blood:	n/a	n/a
6	JUND	chr6:28740282-28740749	K562	blood:	n/a	chr6:28740511-28740522
7	RCOR1	chr6:28740344-28740710	K562	blood:	n/a	n/a
8	TCF7L2	chr6:28740427-28740666	HEK293	kidney:	n/a	n/a
9	JUN	chr6:28740325-28740711	K562	blood:	n/a	n/a
10	MEF2A	chr6:28740285-28740740	K562	blood:	n/a	n/a
11	MAZ	chr6:28740327-28740691	K562	blood:	n/a	n/a
12	JUND	chr6:28740332-28740839	HCT-116	colon:	n/a	chr6:28740511-28740522
13	EP300	chr6:28740282-28740677	K562	blood:	n/a	n/a
14	JUN	chr6:28738715-28741405	K562	blood:	n/a	n/a
15	ATF3	chr6:28740357-28740661	K562	blood:	n/a	n/a
16	JUN	chr6:28740328-28740707	K562	blood:	n/a	n/a
17	EGR1	chr6:28740327-28740647	K562	blood:	n/a	n/a
18	FOSL1	chr6:28740347-28740700	K562	blood:	n/a	chr6:28740511-28740522
19	FOS	chr6:28740344-28740679	MCF10A-Er-Src	breast:	n/a	n/a
20	SUZ12	chr6:28740574-28741749	H1-hESC	embryonic stem cell:	n/a	n/a
21	NR2F2	chr6:28740048-28740872	K562	blood:	n/a	n/a
22	JUN	chr6:28740334-28740690	Hela-S3	cervix:	n/a	n/a
23	TRIM28	chr6:28740223-28740721	K562	blood:	n/a	n/a
24	JUND	chr6:28740448-28740626	HepG2	liver:	n/a	chr6:28740511-28740522
25	ATF1	chr6:28740355-28740668	K562	blood:	n/a	n/a
26	MYC	chr6:28740442-28740652	K562	blood:	n/a	n/a
27	JUND	chr6:28740410-28740681	H1-hESC	embryonic stem cell:	n/a	chr6:28740511-28740522
28	FOS	chr6:28740317-28740706	K562	blood:	n/a	n/a
29	NR2F2	chr6:28739493-28740975	K562	blood:	n/a	n/a
30	JUND	chr6:28740331-28740705	Hela-S3	cervix:	n/a	chr6:28740511-28740522
31	ZC3H11A	chr6:28740495-28740749	K562	blood:	n/a	n/a
32	CTCF	chr6:28740306-28740706	K562	blood:	n/a	n/a
33	CTCF	chr6:28740340-28740691	K562	blood:	n/a	n/a
34	TEAD4	chr6:28740229-28740746	K562	blood:	n/a	n/a
35	FOS	chr6:28740337-28740703	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:28740344-28740700	MCF10A-Er-Src	breast:	n/a	n/a
37	HCFC1	chr6:28740318-28740622	K562	blood:	n/a	n/a
38	CTCF	chr6:28740480-28740630	SAEC	small airway:	n/a	n/a
39	MAX	chr6:28740336-28740673	K562	blood:	n/a	n/a
40	FOSL1	chr6:28740318-28740798	K562	blood:	n/a	chr6:28740511-28740522
41	MEF2A	chr6:28740239-28740632	K562	blood:	n/a	n/a
42	FOSL1	chr6:28740223-28740838	HCT-116	colon:	n/a	chr6:28740511-28740522
43	TBL1XR1	chr6:28740358-28740636	K562	blood:	n/a	n/a
44	FOSL1	chr6:28740191-28740749	HCT-116	colon:	n/a	chr6:28740511-28740522
45	TCF7L2	chr6:28740329-28740768	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28740611-28740661	SK-N-MC	brain:	n/a
2	chr6:28740611-28740661	ovcar-3	ovarian:	n/a
3	chr6:28740611-28740661	HRCEpiC	kidney:	n/a
4	chr6:28740611-28740661	NHBE	bronchial:	n/a
5	chr6:28740611-28740661	AG04450	lung:	fetal
6	chr6:28740611-28740661	RPTEC	kidney:	n/a
7	chr6:28740611-28740661	U87	brain:	n/a
8	chr6:28740611-28740661	A549	lung:	n/a
9	chr6:28740611-28740661	CMK	blood:	n/a
10	chr6:28740611-28740661	HCT-116	colon:	n/a
11	chr6:28740611-28740661	HAEpiC	amniotic membrane:	n/a
12	chr6:28740611-28740661	GM06990	blood:	n/a
13	chr6:28740611-28740661	SK-N-SH	brain:	n/a
14	chr6:28740611-28740661	HCF	heart:	n/a
15	chr6:28740611-28740661	HepG2	liver:	n/a
16	chr6:28740611-28740661	Hela-S3	cervix:	n/a
17	chr6:28740611-28740661	AoSMC	blood vessel:	n/a
18	chr6:28740611-28740661	HRPEpiC	eye:	n/a
19	chr6:28740611-28740661	HUVEC	blood vessel:	n/a
20	chr6:28740611-28740661	HEK293	kidney:	embryo
21	chr6:28740611-28740661	BJ	skin:	n/a
22	chr6:28740611-28740661	HL-60	blood:	n/a
23	chr6:28740611-28740661	IMR90	lung:	fetal
24	chr6:28740611-28740661	H1-hESC	embryonic stem cell:	embryo
25	chr6:28740611-28740661	LNCaP	prostate:	n/a
26	chr6:28740611-28740661	GM12878	blood:	n/a
27	chr6:28740611-28740661	PrEC	prostate:	n/a
28	chr6:28740611-28740661	ProgFib	skin:	n/a
29	chr6:28740611-28740661	HCM	heart:	n/a
30	chr6:28740611-28740661	MCF10A-Er-Src	breast:	n/a
31	chr6:28740611-28740661	GM19239	blood:	n/a
32	chr6:28740611-28740661	AG09309	skin:	n/a
33	chr6:28740611-28740661	HEEpiC	esophagus:	n/a
34	chr6:28740611-28740661	GM12892	blood:	n/a
35	chr6:28740611-28740661	HMEC	breast:	n/a
36	chr6:28740611-28740661	PFSK-1	brain:	n/a
37	chr6:28740611-28740661	NHDF-neo	bronchial:	n/a
38	chr6:28740611-28740661	HIPEpiC	eye:	n/a
39	chr6:28740611-28740661	HNPCEpiC	eye:	n/a
40	chr6:28740611-28740661	ECC-1	luminal epithelium:	n/a
41	chr6:28740611-28740661	K562	blood:	n/a
42	chr6:28740611-28740661	SKMC	muscle:	n/a
43	chr6:28740611-28740661	Jurkat	blood:	n/a
44	chr6:28740611-28740661	T-47D	breast:	n/a
45	chr6:28740611-28740661	MCF-7	breast:	n/a
46	chr6:28740611-28740661	Hepatocyte	liver:	n/a
47	chr6:28740611-28740661	AG09319	gingival:	n/a
48	chr6:28740611-28740661	NT2-D1	testis:	n/a
49	chr6:28740611-28740661	PANC-1	pancreas:	n/a
50	chr6:28740611-28740661	SAEC	small airway:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28739783..28741376-chr6:28889070..28891885,2	MCF-7	breast:
2	chr6:28739105..28742072-chr6:28746732..28748309,2	K562	blood:
3	chr6:28739775..28742884-chr6:28756307..28759477,3	K562	blood:
4	chr6:28739291..28741599-chr6:28752490..28754377,2	K562	blood:
5	chr6:28715045..28717732-chr6:28737419..28740778,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221191	TF binding region
ENSG00000221191	CpG island
ENSG00000204713	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1233614	1.00[ASN][1000 genomes]
rs17280797	0.80[AMR][1000 genomes]
rs17280818	0.80[AMR][1000 genomes]
rs17281186	0.80[AMR][1000 genomes]
rs17346574	0.80[AMR][1000 genomes]
rs2754761	0.95[AFR][1000 genomes]
rs2754762	0.95[AFR][1000 genomes]
rs2754765	0.84[AFR][1000 genomes]
rs2765222	0.84[AFR][1000 genomes]
rs2765223	0.95[AFR][1000 genomes]
rs3999045	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55641015	0.90[AMR][1000 genomes]
rs55659253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55891766	0.80[AMR][1000 genomes]
rs56003969	0.90[AMR][1000 genomes]
rs56030816	0.95[AFR][1000 genomes]
rs56098960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56296645	0.90[AMR][1000 genomes]
rs56374518	0.95[AFR][1000 genomes]
rs56384403	1.00[AMR][1000 genomes]
rs57170714	0.85[AMR][1000 genomes]
rs57693980	0.90[AMR][1000 genomes]
rs57748269	0.90[AMR][1000 genomes]
rs57791058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57965355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58238888	1.00[AMR][1000 genomes]
rs58258185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59233561	0.90[AMR][1000 genomes]
rs59475656	0.90[AMR][1000 genomes]
rs59959723	0.80[AMR][1000 genomes]
rs60252686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60311527	1.00[AMR][1000 genomes]
rs61094745	0.80[AMR][1000 genomes]
rs61208746	1.00[AMR][1000 genomes]
rs61703239	0.90[AMR][1000 genomes]
rs6901325	0.85[AMR][1000 genomes]
rs6905871	0.85[AMR][1000 genomes]
rs6906105	0.85[AMR][1000 genomes]
rs6906506	0.85[AMR][1000 genomes]
rs6909960	1.00[AMR][1000 genomes]
rs6916286	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938988	0.95[AFR][1000 genomes]
rs6939948	0.95[AFR][1000 genomes]
rs7738101	0.85[AMR][1000 genomes]
rs7742889	0.90[AMR][1000 genomes]
rs7748319	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7751451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751884	1.00[AMR][1000 genomes]
rs7754365	0.85[AMR][1000 genomes]
rs7758798	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760656	0.80[AMR][1000 genomes]
rs7765829	0.80[AMR][1000 genomes]
rs7766599	0.80[AMR][1000 genomes]
rs7772111	1.00[AMR][1000 genomes]
rs7772682	0.95[AMR][1000 genomes]
rs9257182	0.98[ASN][1000 genomes]
rs9688414	1.00[AMR][1000 genomes]
rs9767343	0.91[AMR][1000 genomes]
rs9767359	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28733600-28740800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:28738200-28740800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr6:28739200-28740800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:28739600-28740800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:28739600-28741000	Flanking Active TSS	K562	blood
6	chr6:28740000-28740800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:28740000-28740800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:28740000-28740800	Flanking Active TSS	Hela-S3	cervix
9	chr6:28740000-28746000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:28740200-28741800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr6:28740200-28742000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:28740400-28741200	Bivalent Enhancer	NHEK	skin
13	chr6:28740400-28741400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:28740400-28741800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr6:28740400-28745200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:28740600-28740800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
17	chr6:28740600-28740800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:28740600-28740800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:28740600-28740800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr6:28740600-28740800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr6:28740600-28741000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr6:28740600-28741000	Bivalent Enhancer	HMEC	breast
23	chr6:28740600-28741200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr6:28740600-28741200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:28740600-28741400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:28740600-28741400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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